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<meta name="keywords" content="C3810100, disease or syndrome, ehhadh, ehhadh fanconi syndrome, fanconi renotubular syndrome 3, fanconi renotubular syndrome type 3, fanconi syndrome caused by mutation in ehhadh, frts3, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Fanconi renotubular syndrome-3 (FRTS3) is an autosomal dominant disorder characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria (summary by Klootwijk et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=816430
|
||
ConceptID=C3810100
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Fanconi renotubular syndrome 3<span class="h1sub">(FRTS3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816430</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3810100</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>FRTS3</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="EHHADH - ID: 1962 - NCBI Gene" href="/gene/1962" class="medgenPMinfo">EHHADH</a> (3q27.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014275" target="_blank">MONDO:0014275</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615605" target="_blank">615605</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Fanconi renotubular syndrome-3 (FRTS3) is an autosomal dominant disorder characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria (summary by Klootwijk et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_42267"><div><strong>Glycosuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42267</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0017979</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of glucose in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42267">Feature record</a> | <a href="/medgen?term=%22Glycosuria%22%5BClinical%20Features%5D%20OR%2042267%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116067"><div><strong>Aminoaciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116067</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0238621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of an amino acid in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116067">Feature record</a> | <a href="/medgen?term=%22Aminoaciduria%22%5BClinical%20Features%5D%20OR%20116067%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78638"><div><strong>Hyperphosphaturia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78638</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268079</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased excretion of phosphates in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78638">Feature record</a> | <a href="/medgen?term=%22Hyperphosphaturia%22%5BClinical%20Features%5D%20OR%2078638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332529"><div><strong>Renal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332529</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1565489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332529">Feature record</a> | <a href="/medgen?term=%22Renal%20insufficiency%22%5BClinical%20Features%5D%20OR%20332529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333360"><div><strong>Low-molecular-weight proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333360</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333360">Feature record</a> | <a href="/medgen?term=%22Low-molecular-weight%20proteinuria%22%5BClinical%20Features%5D%20OR%20333360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48470"><div><strong>Rickets</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48470</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0035579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48470">Feature record</a> | <a href="/medgen?term=%22Rickets%22%5BClinical%20Features%5D%20OR%2048470%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1807399"><div><strong>Bowing of the legs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1807399</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5574706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bending or abnormal curvature affecting a long bone of the leg.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1807399">Feature record</a> | <a href="/medgen?term=%22Bowing%20of%20the%20legs%22%5BClinical%20Features%5D%20OR%201807399%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65117"><div><strong>Metabolic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65117</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0220981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65117">Feature record</a> | <a href="/medgen?term=%22Metabolic%20acidosis%22%5BClinical%20Features%5D%20OR%2065117%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_148579"><div><strong>Elevated circulating creatinine concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148579</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0700225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of creatinine in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148579">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatinine%20concentration%22%5BClinical%20Features%5D%20OR%20148579%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_148579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatinine concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65117" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metabolic acidosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aminoaciduria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycosuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperphosphaturia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-molecular-weight proteinuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal insufficiency</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1807399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bowing of the legs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rickets</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38697731">Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wlodarski MW,
|
||
Vlachos A,
|
||
Farrar JE,
|
||
Da Costa LM,
|
||
Kattamis A,
|
||
Dianzani I,
|
||
Belendez C,
|
||
Unal S,
|
||
Tamary H,
|
||
Pasauliene R,
|
||
Pospisilova D,
|
||
de la Fuente J,
|
||
Iskander D,
|
||
Wolfe L,
|
||
Liu JM,
|
||
Shimamura A,
|
||
Albrecht K,
|
||
Lausen B,
|
||
Bechensteen AG,
|
||
Tedgard U,
|
||
Puzik A,
|
||
Quarello P,
|
||
Ramenghi U,
|
||
Bartels M,
|
||
Hengartner H,
|
||
Farah RA,
|
||
Al Saleh M,
|
||
Hamidieh AA,
|
||
Yang W,
|
||
Ito E,
|
||
Kook H,
|
||
Ovsyannikova G,
|
||
Kager L,
|
||
Gleizes PE,
|
||
Dalle JH,
|
||
Strahm B,
|
||
Niemeyer CM,
|
||
Lipton JM,
|
||
Leblanc TM;
|
||
international Diamond-Blackfan anaemia syndrome guideline panel</span><br />
|
||
<span class="medgenPMjournal">Lancet Haematol</span>
|
||
2024 May;11(5):e368-e382.
|
||
doi: 10.1016/S2352-3026(24)00063-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38697731" target="_blank">38697731</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38365697">Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Du T,
|
||
Xia Y,
|
||
Sun C,
|
||
Gong Z,
|
||
Liang L,
|
||
Gong Z,
|
||
Wang R,
|
||
Lu D,
|
||
Zhang K,
|
||
Yang Y,
|
||
Sun Y,
|
||
Sun M,
|
||
Sun Y,
|
||
Xiao B,
|
||
Qiu W</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Feb 16;19(1):75.
|
||
doi: 10.1186/s13023-024-03070-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38365697" target="_blank">38365697</a><a href="/pmc/articles/PMC10874070" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35352187">Rickets guidance: part II-management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haffner D,
|
||
Leifheit-Nestler M,
|
||
Grund A,
|
||
Schnabel D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2022 Oct;37(10):2289-2302.
|
||
Epub 2022 Mar 29
|
||
doi: 10.1007/s00467-022-05505-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35352187" target="_blank">35352187</a><a href="/pmc/articles/PMC9395459" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(fanconi%20renotubular%20syndrome%203)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (23)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35445972">Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Younsi M,
|
||
Trabelsi M,
|
||
Ben Youssef S,
|
||
Ouertani I,
|
||
Hammi Y,
|
||
Achour A,
|
||
Maazoul F,
|
||
Kharrat M,
|
||
Gargah T,
|
||
M'rad R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2023 Jan;38(1):119-129.
|
||
Epub 2022 Apr 20
|
||
doi: 10.1007/s00467-022-05525-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35445972" target="_blank">35445972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28577739">Mitochondrial cytopathies and the kidney.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emma F,
|
||
Salviati L</span><br />
|
||
<span class="medgenPMjournal">Nephrol Ther</span>
|
||
2017 Apr;13 Suppl 1:S23-S28.
|
||
doi: 10.1016/j.nephro.2017.01.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28577739" target="_blank">28577739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28135145">Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yurgelun MB,
|
||
Kulke MH,
|
||
Fuchs CS,
|
||
Allen BA,
|
||
Uno H,
|
||
Hornick JL,
|
||
Ukaegbu CI,
|
||
Brais LK,
|
||
McNamara PG,
|
||
Mayer RJ,
|
||
Schrag D,
|
||
Meyerhardt JA,
|
||
Ng K,
|
||
Kidd J,
|
||
Singh N,
|
||
Hartman AR,
|
||
Wenstrup RJ,
|
||
Syngal S</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2017 Apr 1;35(10):1086-1095.
|
||
Epub 2017 Jan 30
|
||
doi: 10.1200/JCO.2016.71.0012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28135145" target="_blank">28135145</a><a href="/pmc/articles/PMC5455355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26752687">DNA polymerase inhibitors for treating hepatitis B: a safety evaluation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mak LY,
|
||
Seto WK,
|
||
Lai CL,
|
||
Yuen MF</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Drug Saf</span>
|
||
2016;15(3):383-92.
|
||
Epub 2016 Feb 1
|
||
doi: 10.1517/14740338.2016.1139573.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26752687" target="_blank">26752687</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7039817">Cytogenetics of preleukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nowell PC</span><br />
|
||
<span class="medgenPMjournal">Cancer Genet Cytogenet</span>
|
||
1982 Mar;5(3):265-78.
|
||
doi: 10.1016/0165-4608(82)90034-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7039817" target="_blank">7039817</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20renotubular%20syndrome%203%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (312)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39023331">A review of renal tubular acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kunchur MG,
|
||
Mauch TJ,
|
||
Parkanzky M,
|
||
Rahilly LJ</span><br />
|
||
<span class="medgenPMjournal">J Vet Emerg Crit Care (San Antonio)</span>
|
||
2024 Jul-Aug;34(4):325-355.
|
||
Epub 2024 Jul 18
|
||
doi: 10.1111/vec.13407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39023331" target="_blank">39023331</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38697731">Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wlodarski MW,
|
||
Vlachos A,
|
||
Farrar JE,
|
||
Da Costa LM,
|
||
Kattamis A,
|
||
Dianzani I,
|
||
Belendez C,
|
||
Unal S,
|
||
Tamary H,
|
||
Pasauliene R,
|
||
Pospisilova D,
|
||
de la Fuente J,
|
||
Iskander D,
|
||
Wolfe L,
|
||
Liu JM,
|
||
Shimamura A,
|
||
Albrecht K,
|
||
Lausen B,
|
||
Bechensteen AG,
|
||
Tedgard U,
|
||
Puzik A,
|
||
Quarello P,
|
||
Ramenghi U,
|
||
Bartels M,
|
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<div class="nl"><a target="_blank" href="/pubmed/26752687">DNA polymerase inhibitors for treating hepatitis B: a safety evaluation.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20renotubular%20syndrome%203%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (152)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/28135145">Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yurgelun MB,
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Kulke MH,
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Fuchs CS,
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Uno H,
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Hornick JL,
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Mayer RJ,
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Schrag D,
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Meyerhardt JA,
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Kidd J,
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Singh N,
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Hartman AR,
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Wenstrup RJ,
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Syngal S</span><br />
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2017 Apr 1;35(10):1086-1095.
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<span class="bold">PMID: </span><a href="/pubmed/28135145" target="_blank">28135145</a><a href="/pmc/articles/PMC5455355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26752687">DNA polymerase inhibitors for treating hepatitis B: a safety evaluation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mak LY,
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Seto WK,
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Lai CL,
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Yuen MF</span><br />
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<span class="medgenPMjournal">Expert Opin Drug Saf</span>
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2016;15(3):383-92.
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Epub 2016 Feb 1
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<span class="bold">PMID: </span><a href="/pubmed/26752687" target="_blank">26752687</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17720526">Salicylate-induced proximal tubular dysfunction.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tsimihodimos V,
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Psychogios N,
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Kakaidi V,
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Bairaktari E,
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Elisaf M</span><br />
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<span class="medgenPMjournal">Am J Kidney Dis</span>
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2007 Sep;50(3):463-7.
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<span class="bold">PMID: </span><a href="/pubmed/17720526" target="_blank">17720526</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/765953">Inherited biochemical defects affecting the kidney.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Caskey CT</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20renotubular%20syndrome%203%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (191)</a></div></div>
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||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36114663">Systemic conditions associated with increased risk to develop oral squamous cell carcinoma: Systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dos Santos ES,
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Pérez-de-Oliveira ME,
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Normando AGC,
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Gueiros LAM,
|
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Rogatto SR,
|
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Vargas PA,
|
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Lopes MA,
|
||
da Silva Guerra EN,
|
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Leme AFP,
|
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Santos-Silva AR</span><br />
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<span class="medgenPMjournal">Head Neck</span>
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2022 Dec;44(12):2925-2937.
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Epub 2022 Sep 16
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doi: 10.1002/hed.27193.
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<span class="bold">PMID: </span><a href="/pubmed/36114663" target="_blank">36114663</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28692321">A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Medic G,
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van der Weijden M,
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Karabis A,
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Hemels M</span><br />
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<span class="medgenPMjournal">Curr Med Res Opin</span>
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2017 Nov;33(11):2065-2076.
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Epub 2017 Aug 3
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||
<span class="bold">PMID: </span><a href="/pubmed/28692321" target="_blank">28692321</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/18363176">A systematic review of the accuracy and utility of early markers of Ifosfamide-induced proximal tubulopathy in survivors of childhood cancers.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Phillips RS,
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Tyerman K,
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Al-Kassim MI,
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20renotubular%20syndrome%203%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
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||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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</div>
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||
|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3810100%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3810100%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C3810100%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3810100%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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