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<span>Myhre syndrome</span>
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<h1>Myhre syndrome</h1>
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<h2>Description</h2>
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<section><div class="mp-content"><p>Myhre syndrome is a rare condition that affects <a class="image-modal" data-alt="Components of connective tissue, labelled, including collagen fibers, elastic fibers, reticular fibers, capillaries, fat cells and other cell types." data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX0000S4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000S4" data-sourceurl="" data-title="Connective tissues" href="https://medlineplus.gov/images/PX0000S4_PRESENTATION.jpeg" id="PX0000S4_1" title="Show image">connective tissue<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Connective tissue provides strength and flexibility to structures throughout the body. Myhre syndrome has a variety of signs and symptoms that affect many parts of the body, though not everyone has all the possible features. The features of the condition can range in severity, and some features become more apparent with age.</p><p>Common signs and symptoms of Myhre syndrome include short stature, skeletal abnormalities, limited joint mobility, characteristic facial features, intellectual and behavioral problems, hearing loss, a tendency for the buildup of scar tissue (fibrosis) in the skin and internal organs, and <a class="image-modal" data-alt="A cross-section of various structures that make up the normal heart." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0002LE_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002LE" data-sourceurl="https://www.nlm.nih.gov/" data-title="Normal heart anatomy" href="https://medlineplus.gov/images/PX0002LE_PRESENTATION.jpeg" id="PX0002LE_2" title="Show image">heart<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and lung abnormalities.</p><p>Growth is reduced in most people with Myhre syndrome, beginning before birth and continuing through adolescence. Affected individuals usually have a low birth weight and are generally shorter than about 97 percent of their peers throughout life. They have shortened long bones of the arms and legs, unusually short fingers and toes (<a class="image-modal" data-alt="Photograph of a person's foot showing their short toes." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0002AY_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002AY" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=990cccce54c6f32e" data-title="Short toes (brachydactyly of the foot)" href="https://medlineplus.gov/images/PX0002AY_PRESENTATION.jpeg" id="PX0002AY_3" title="Show image">brachydactyly<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), and curved pinky fingers (fifth finger <a class="image-modal" data-alt="Photograph of a person's hands with clinodactyly on both hands." data-caption="Clinodactyly, bilateral." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX00029F_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00029F" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=483af428f909c76c" data-title="Clinodactyly" href="https://medlineplus.gov/images/PX00029F_PRESENTATION.jpeg" id="PX00029F_4" title="Show image">clinodactyly<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). Other skeletal abnormalities associated with this disorder include thickening of the skull bones, flattened bones of the spine (platyspondyly), broad ribs, and underdevelopment of the wing-shaped structures of the pelvis (hypoplastic iliac wings). Affected individuals often have joint problems (arthropathy), including stiffness and limited mobility.</p><p>Typical facial features in people with Myhre syndrome include narrow openings of the eyelids (<a class="image-modal" data-alt="Photograph of a child's face, showing eyes with short palpebral fissures." data-caption="Young female with mildly to moderately short palpebral fissures." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001T4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001T4" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=8ea165ff88fe04c3" data-title="Short palpebral fissures" href="https://medlineplus.gov/images/PX0001T4_PRESENTATION.jpeg" id="PX0001T4_5" title="Show image">short palpebral fissures<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), deeply set eyes, a shortened distance between the nose and upper lip (a short philtrum), a <a class="image-modal" data-alt="Photograph of a baby's narrow mouth." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX00024B_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00024B" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=dbaf4cd806daeacb" data-title="Narrow mouth (microstomia)" href="https://medlineplus.gov/images/PX00024B_PRESENTATION.jpeg" id="PX00024B_6" title="Show image">narrow mouth<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> with a <a class="image-modal" data-alt="Photograph of a child's mouth showing a thin upper lip." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX00022Z_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00022Z" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=a5293d97f7bfc31c" data-title="Thin upper lip" href="https://medlineplus.gov/images/PX00022Z_PRESENTATION.jpeg" id="PX00022Z_7" title="Show image">thin upper lip<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, an underdeveloped upper jaw, and a protruding lower jaw (<a class="image-modal" data-alt="Photograph of the side view of the face of a person with prognathism." data-caption="There is anterior protrusion of the mandible such that the alveolar ridge extends beyond the vertical plane of the maxillary alveolar ridge." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001LI_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001LI" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=cf3eb35245d52feb" data-title="Prognathism" href="https://medlineplus.gov/images/PX0001LI_PRESENTATION.jpeg" id="PX0001LI_8" title="Show image">prognathism<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). Some affected individuals are born with an opening in the roof of the mouth (a <a class="image-modal" data-alt="Baby with an opening in the roof of the mouth; inset shows greater detail." data-caption="" data-credit="Centers for Disease Control and Prevention" data-filepath="images/PX0000FG_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000FG" data-sourceurl="https://www.cdc.gov/birth-defects/about/cleft-lip-cleft-palate.html" data-title="Baby with cleft palate" href="https://medlineplus.gov/images/PX0000FG_PRESENTATION.jpeg" id="PX0000FG_9" title="Show image">cleft palate<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), a split in the lip (a <a class="image-modal" data-alt="Baby with an opening between the upper lip and the nose." data-caption="" data-credit="Centers for Disease Control and Prevention" data-filepath="images/PX0000FK_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000FK" data-sourceurl="https://www.cdc.gov/birth-defects/about/cleft-lip-cleft-palate.html" data-title="Baby with cleft lip" href="https://medlineplus.gov/images/PX0000FK_PRESENTATION.jpeg" id="PX0000FK_10" title="Show image">cleft lip<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), or both. <a class="image-modal" data-alt="In normal vision, light is focused at a single point on the back of the eye. In myopia, the light is focused in front of the back of the eye. In hyperopia, the light is focused beyond the back of the eye. And in astigmatism, the light is focused at multiple points on the back of the eye." data-caption="" data-credit="Tefi/Shutterstock.com" data-filepath="images/PX0000Q0_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000Q0" data-sourceurl="" data-title="Vision disorders: astigmatism, hyperopia, and myopia" href="https://medlineplus.gov/images/PX0000Q0_PRESENTATION.jpeg" id="PX0000Q0_11" title="Show image">Vision problems<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> are common in this disorder and can include eyes that do not point in the same direction (strabismus), <a data-pid="16905" href="https://medlineplus.gov/genetics/condition/nearsightedness/">nearsightedness</a> (<a class="image-modal" data-alt="Diagram of light entering an eye with myopia." data-caption="" data-credit="National Eye Institute/National Institutes of Health" data-filepath="images/PX00000O_PRESENTATION.png" data-imgtype="genetics" data-pix="PX00000O" data-sourceurl="https://www.flickr.com/photos/nationaleyeinstitute/" data-title="Myopia (nearsightedness)" href="https://medlineplus.gov/images/PX00000O_PRESENTATION.png" id="PX00000O_13" title="Show image">myopia<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), <a data-pid="16909" href="https://medlineplus.gov/genetics/condition/farsightedness/">farsightedness</a> (<a class="image-modal" data-alt="Diagram of light entering an eye with hyperopia." data-caption="" data-credit="National Eye Institute/National Institutes of Health" data-filepath="images/PX00000W_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00000W" data-sourceurl="https://www.flickr.com/photos/nationaleyeinstitute/" data-title="Hyperopia (farsightedness)" href="https://medlineplus.gov/images/PX00000W_PRESENTATION.jpeg" id="PX00000W_15" title="Show image">hyperopia<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), an irregular curvature of the front of the eye (astigmatism), clouding of the lenses (<a class="image-modal" data-alt="Drawing of a healthy eye with a clear lens compared to an eye with a lens clouded by cataract." data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX0000US_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000US" data-sourceurl="" data-title="Healthy eye and eye with cataract" href="https://medlineplus.gov/images/PX0000US_PRESENTATION.jpeg" id="PX0000US_16" title="Show image">cataracts<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), or rarely, an abnormality of the back of the eye called pseudopapilledema.</p><p>Children with Myhre syndrome have delayed development, which is noticeable by age 5. Speech and language delay are the most significant. Motor skills such as crawling and walking may be delayed, although children with Myhre syndrome eventually learn to walk. Most affected individuals have intellectual disability that ranges from mild to moderate, yet some are able to have jobs or pursue higher education.</p><p>People with Myhre syndrome typically have features like those in <a data-pid="16743" href="https://medlineplus.gov/genetics/condition/autism-spectrum-disorder/">autism spectrum disorder</a>, which affects communication and social interaction. These problems vary in severity, and they usually improve over time.</p><p>Hearing loss occurs in most people with Myhre syndrome, usually beginning in childhood and gradually worsening. If not detected promptly, hearing problems can contribute to learning and behavioral problems.</p><p>Fibrosis in Myhre syndrome can occur in the absence of injury (spontaneously) or develop following surgery or trauma. Affected individuals typically have stiff, thickened skin, usually beginning in childhood. Typically, the skin changes first appear on the palms of the hands, the soles of the feet, the back of the elbows, and the front of the knees. Eventually the skin thickens on other parts of the body. As a result of the thicker skin, affected individuals typically have fewer facial creases (wrinkles) than others of their age. Scars may be more noticeable or become unusually thickened after healing (keloids or hypertrophic scars).</p><p>Individuals with Myhre syndrome often have problems with the structure of the heart that are present at birth (congenital heart defects). Fibrosis in the heart and blood vessels (cardiovascular system) can lead to the development of additional problems such as high blood pressure (<a data-pid="16961" href="https://medlineplus.gov/genetics/condition/hypertension/">hypertension</a>) and narrowing (stenosis) of the heart valves or blood vessels. Other cardiovascular problems can include swelling and tightening of the <a class="image-modal" data-alt="The pericardium is the sac surrounding the heart; inset shows the layers of the pericardium." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0002LY_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002LY" data-sourceurl="https://www.nlm.nih.gov/" data-title="Pericardium" href="https://medlineplus.gov/images/PX0002LY_PRESENTATION.jpeg" id="PX0002LY_19" title="Show image">pericardium<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which is the membrane that surrounds the heart (pericarditis), and rarely, restrictive cardiomyopathy, in which the heart muscle is stiff and cannot fully relax after each contraction. These cardiovascular problems can be life-threatening.</p><p>Abnormalities of the lungs and airways (<a class="image-modal" data-alt="Anatomy of the respiratory system, showing the trachea and both lungs and their lobes and airways. Lymph nodes and the diaphragm are also shown." data-caption="Anatomy of the respiratory system, showing the trachea and both lungs and their lobes and airways. Lymph nodes and the diaphragm are also shown. Oxygen is inhaled into the lungs and passes through the thin membranes of the alveoli and into the bloodstream (see inset)." data-credit="© 2006 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX00024F_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00024F" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=7235" data-title="Respiratory system" href="https://medlineplus.gov/images/PX00024F_PRESENTATION.jpeg" id="PX00024F_20" title="Show image">respiratory tract<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) in people with Myhre syndrome include narrowing of the windpipe (laryngotracheal stenosis) and the passages leading from the windpipe to the lungs (bronchi); difficulty filling the lungs with air when inhaling (restrictive pulmonary disease); or widespread lung damage (interstitial lung disease). These respiratory tract problems can be life-threatening.</p><p>Additional features of Myhre syndrome include problems in the gastrointestinal tract, such as narrowing of the lower part of the <a class="image-modal" data-alt="The esophagus and stomach are part of the upper gastrointestinal (digestive) system." data-caption="The esophagus and stomach are part of the upper gastrointestinal (digestive) system." data-credit="© 2005 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX000263_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000263" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=7206" data-title="Upper gastrointestinal tract" href="https://medlineplus.gov/images/PX000263_PRESENTATION.jpeg" id="PX000263_21" title="Show image">stomach<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (pyloric stenosis) or of the upper part of the <a class="image-modal" data-alt="Anatomy of the lower digestive system, showing the colon, small intestine, rectum, and other organs." data-caption="Anatomy of the lower digestive system, showing the colon and other organs." data-credit="© 2011 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001VQ_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001VQ" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=7179" data-title="Lower gastrointestinal tract" href="https://medlineplus.gov/images/PX0001VQ_PRESENTATION.jpeg" id="PX0001VQ_22" title="Show image">small intestine<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (duodenal strictures) and severe constipation. People with Myhre syndrome also may have an increased risk of developing cancerous or noncancerous tumors, including cancer of the <a class="image-modal" data-alt="Diagram of the female reproductive system, including the uterus, ovaries, fallopian tubes, and other major structures." data-caption="" data-credit="NIH Medical Arts/National Cancer Institute" data-filepath="images/PX000038_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000038" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=4369" data-title="Female reproductive system" href="https://medlineplus.gov/images/PX000038_PRESENTATION.jpeg" id="PX000038_23" title="Show image">lining of the uterus<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (endometrial cancer).</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>Myhre syndrome is a rare disorder; its prevalence is unknown. Almost 100 cases have been documented in the medical literature.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>Mutations in the <i><a data-pid="17501" href="https://medlineplus.gov/genetics/gene/smad4/">SMAD4</a></i> gene cause Myhre syndrome. The <i>SMAD4</i> gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the <a class="image-modal" data-alt="The nucleus is the central structure in a cell." data-caption="" data-credit="Biblioteca Nacional de Medicina de los EE. UU." data-filepath="images/PX00007C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00007C" data-sourceurl="" data-title="Nucleus" href="https://medlineplus.gov/images/PX00007C_PRESENTATION.jpeg" id="PX00007C_2" title="Show image">nucleus<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. This signaling pathway, called the transforming growth factor beta (TGF-β) pathway, allows the environment outside the cell to affect gene activity and protein production within the cell. As part of this pathway, the SMAD4 protein interacts with other proteins to control the activity of particular genes. These genes influence the development of many body systems.</p><p>Studies suggest that the <i>SMAD4</i> gene mutations that cause Myhre syndrome result in an abnormally stable SMAD4 protein that remains active in the cell longer than it is needed. Increased SMAD4 availability allows the protein more time to interact with other proteins and may result in abnormal TGF-β signaling in many cell types, which affects development of several body systems and leads to the signs and symptoms of Myhre syndrome.</p></div>
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</section>
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<section>
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<div class="related-genes mp-exp exp-full">
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<h3>Learn more about the gene associated with Myhre syndrome</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/gene/smad4/">SMAD4</a></li>
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</ul>
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</div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="inheritance">
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<h2>Inheritance</h2>
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<section><div class="mp- mp-content"><p>Myhre syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered <i><a data-pid="17501" href="https://medlineplus.gov/genetics/gene/smad4/">SMAD4</a></i> gene in each cell is sufficient to cause the disorder.</p><p>In almost all cases, the condition results from <a class="image-modal" data-alt="Neither parent has the mutated gene. A spontaneous mutation occurs during the formation of an egg or sperm cell during embryonic development, leading to an affected child." data-caption="
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||
" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A8" data-sourceurl="" data-title="Autosomal dominant inheritance with a new (de novo) mutation" href="https://medlineplus.gov/images/PX0000A8_PRESENTATION.jpeg" id="PX0000A8_2" title="Show image">new mutations in the gene<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and occurs in people with no history of the disorder in their family. Rarely, an affected person inherits the mutation from <a class="image-modal" data-alt="A parent with an autosomal dominant condition passes the altered gene to two affected children. Two other children do not receive the altered gene, and are unaffected." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009C" data-sourceurl="" data-title="Autosomal dominant inheritance" href="https://medlineplus.gov/images/PX00009C_PRESENTATION.jpeg" id="PX00009C_3" title="Show image">one affected parent<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
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<h2>Other Names for This Condition</h2>
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<section>
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<ul class="bulletlist">
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<li>LAPS syndrome</li> <li>Laryngotracheal stenosis, arthropathy, prognathism, and short stature</li>
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</ul>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="resources">
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<h2>Additional Information & Resources</h2>
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<section>
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<div class="mp-content">
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<h2>Genetic Testing Information</h2>
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<ul>
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<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0796081/" target="TheNewWin">Genetic Testing Registry: Myhre syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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</ul>
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</div>
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</section>
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<section>
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<div class="mp-content">
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<h2>Genetic and Rare Diseases Information Center</h2>
|
||
<ul>
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<li><a href="https://rarediseases.info.nih.gov/diseases/2572/index" target="TheNewWin">Myhre syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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</ul>
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</div>
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</section>
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<section>
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<div class="mp-content">
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<h2>Patient Support and Advocacy Resources</h2>
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<ul>
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<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
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|
||
</ul>
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</div>
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</section>
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<section>
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<div class="mp-content">
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||
<h2>Clinical Trials</h2>
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<ul>
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||
<li><a href="https://clinicaltrials.gov/search?cond=%22Myhre syndrome%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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||
</ul>
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</div>
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</section>
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<section>
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<div class="mp-content">
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||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
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||
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<li><a href="https://omim.org/entry/139210" target="TheNewWin">MYHRE SYNDROME; MYHRS</a></li>
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||
</ul>
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</div>
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</section>
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<section>
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<div class="mp-content">
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||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28myhre+syndrome%5BTIAB%5D%29+OR+%28laps+syndrome%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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||
|
||
</ul>
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</div>
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</section>
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</div>
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||
<div class="mp-exp exp-full" data-bookmark="references">
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||
<h2>References</h2>
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||
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||
<section>
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||
<div class="mp-content">
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||
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||
<ul>
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||
<li>Caputo V, Bocchinfuso G, Castori M, Traversa A, Pizzuti A, Stella L,
|
||
Grammatico P, Tartaglia M. Novel SMAD4 mutation causing Myhre syndrome. Am J Med
|
||
Genet A. 2014 Jul;164A(7):1835-40. doi: 10.1002/ajmg.a.36544. Epub 2014 Apr 8.
|
||
<a href="https://pubmed.ncbi.nlm.nih.gov/24715504" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Caputo V, Cianetti L, Niceta M, Carta C, Ciolfi A, Bocchinfuso G, Carrani E,
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Dentici ML, Biamino E, Belligni E, Garavelli L, Boccone L, Melis D, Andria G,
|
||
Gelb BD, Stella L, Silengo M, Dallapiccola B, Tartaglia M. A restricted spectrum
|
||
of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. Am J
|
||
Hum Genet. 2012 Jan 13;90(1):161-9. doi: 10.1016/j.ajhg.2011.12.011. <a href="https://pubmed.ncbi.nlm.nih.gov/22243968" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3257749/" target="TheNewWin">Free article on PubMed Central</a></li>
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||
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||
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||
<li>Garavelli L, Maini I, Baccilieri F, Ivanovski I, Pollazzon M, Rosato S,
|
||
Iughetti L, Unger S, Superti-Furga A, Tartaglia M. Natural history and
|
||
life-threatening complications in Myhre syndrome and review of the literature.
|
||
Eur J Pediatr. 2016 Oct;175(10):1307-15. doi: 10.1007/s00431-016-2761-3. Epub
|
||
2016 Aug 25. <a href="https://pubmed.ncbi.nlm.nih.gov/27562837" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
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||
<li>Le Goff C, Mahaut C, Abhyankar A, Le Goff W, Serre V, Afenjar A, Destree A, di
|
||
Rocco M, Heron D, Jacquemont S, Marlin S, Simon M, Tolmie J, Verloes A, Casanova
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||
JL, Munnich A, Cormier-Daire V. Mutations at a single codon in Mad homology 2
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