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<span>Carney complex</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/carney-complex/</span>
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<h1>Carney complex</h1>
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<h2>Description</h2>
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<section><div class="mp-content"><p>Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood.</p><p>Individuals with Carney complex are at increased risk of developing noncancerous (benign) tumors called myxomas in the heart (cardiac myxoma) and other parts of the body. Cardiac myxomas may be found in any of <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_1" title="Show image">the four chambers of the heart<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and can develop in more than one chamber. These tumors can block the flow of blood through the heart, causing serious complications or sudden death. Myxomas may also develop on <a class="image-modal" data-alt="Anatomy of the skin, showing the epidermis, dermis, and subcutaneous tissue." data-caption="Anatomy of the skin, showing the epidermis, dermis, and subcutaneous tissue." data-credit="© 2008 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX00025F_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00025F" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=7280" data-title="Skin anatomy" href="https://medlineplus.gov/images/PX00025F_PRESENTATION.jpeg" id="PX00025F_2" title="Show image">the skin<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and in internal organs. Skin myxomas appear as small bumps on the surface of the skin or as lumps underneath the skin. In Carney complex, myxomas have a tendency to recur after they are removed.</p><p>Individuals with Carney complex also develop tumors in hormone-producing (<a class="image-modal" data-alt="Glands and organs of the endocrine system; drawing shows the hypothalamus, pituitary gland, pineal gland, thyroid gland, thymus, adrenal gland, pancreas, ovaries (female), and testes (male). An inset shows the back view of the thyroid gland with the four pea-sized parathyroid glands on it." data-caption="Glands and organs of the endocrine system. The endocrine system is made up of glands and organs that make hormones that control many important functions in the body. These include the hypothalamus, pituitary gland, pineal gland, thyroid gland, parathyroid glands, thymus, adrenal glands, pancreas, and the reproductive organs (ovaries in females and testes in males)." data-credit="© 2019 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0003LC_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0003LC" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=12233" data-title="Endocrine glands" href="https://medlineplus.gov/images/PX0003LC_PRESENTATION.jpeg" id="PX0003LC_3" title="Show image">endocrine<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) glands, such as the <a class="image-modal" data-alt="Drawing of the abdomen showing the left and right adrenal glands, the left and right kidneys, and major blood vessels. A cross section of an adrenal gland is in an inset showing the adrenal cortex and the adrenal medulla." data-caption="Anatomy of the adrenal gland. There are two adrenal glands, one on top of each kidney. The outer part of each gland is the adrenal cortex; the inner part is the adrenal medulla." data-credit="© 2013 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001OL_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001OL" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9489" data-title="Adrenal glands" href="https://medlineplus.gov/images/PX0001OL_PRESENTATION.jpeg" id="PX0001OL_4" title="Show image">adrenal glands<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> located on top of each kidney. People with this condition may develop a specific type of adrenal disease called primary pigmented nodular adrenocortical disease (PPNAD). PPNAD causes the adrenal glands to produce an excess of the hormone cortisol. High levels of cortisol (hypercortisolism) can lead to the development of Cushing syndrome. This syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems.</p><p>People with Carney complex may also develop tumors of other endocrine tissues, including the <a class="image-modal" data-alt="The thyroid gland lies at the base of the throat near the trachea. It is shaped like a butterfly, with the right lobe and left lobe connected by a thin piece of tissue called the isthmus. The parathyroid glands are four pea-sized organs found in the neck near the thyroid." data-caption="The thyroid gland lies at the base of the throat near the trachea. It is shaped like a butterfly, with the right lobe and left lobe connected by a thin piece of tissue called the isthmus. The parathyroid glands are four pea-sized organs found in the neck near the thyroid. The thyroid and parathyroid glands make hormones." data-credit="© 2012 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX00025V_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00025V" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9268" data-title="Thyroid gland and parathyroid glands" href="https://medlineplus.gov/images/PX00025V_PRESENTATION.jpeg" id="PX00025V_5" title="Show image">thyroid<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, <a class="image-modal" data-alt="Anatomy of the male reproductive and urinary systems showing the prostate, testicles, bladder, and other organs." data-caption="Anatomy of the male reproductive and urinary systems showing the prostate, testicles, bladder, and other organs." data-credit="© 2005 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001WA_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001WA" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9806" data-title="Male reproductive system" href="https://medlineplus.gov/images/PX0001WA_PRESENTATION.jpeg" id="PX0001WA_6" title="Show image">testes<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, and <a class="image-modal" data-alt="The organs in the female reproductive system include the uterus, ovaries, fallopian tubes, cervix, and vagina. The uterus has a muscular outer layer called the myometrium and an inner lining called the endometrium." data-caption="Anatomy of the female reproductive system. The organs in the female reproductive system include the uterus, ovaries, fallopian tubes, cervix, and vagina. The uterus has a muscular outer layer called the myometrium and an inner lining called the endometrium." data-credit="© 2009 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001TX_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001TX" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=8262" data-title="Female reproductive system" href="https://medlineplus.gov/images/PX0001TX_PRESENTATION.jpeg" id="PX0001TX_7" title="Show image">ovaries<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. A tumor called an adenoma may form in the <a class="image-modal" data-alt="Anatomy of the inside of the brain, showing the pineal and pituitary glands, optic nerve, ventricles (with cerebrospinal fluid shown in blue), and other parts of the brain." data-caption="Anatomy of the inside of the brain, showing the pineal and pituitary glands, optic nerve, ventricles (with cerebrospinal fluid shown in blue), and other parts of the brain." data-credit="© 2010 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001ZR_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001ZR" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9118" data-title="Parts of the brain, internal" href="https://medlineplus.gov/images/PX0001ZR_PRESENTATION.jpeg" id="PX0001ZR_8" title="Show image">pituitary gland<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which is located at the base of the brain. A pituitary adenoma usually results in the production of too much growth hormone. Excess growth hormone leads to acromegaly, a condition characterized by large hands and feet, arthritis, and <a class="image-modal" data-alt="Front view photos of two individuals with coarse features" data-caption="Facial features lack the usual fine and sharp appearance and are rounded and heavy with thickened skin, subcutaneous or bony tissues." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001HT_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001HT" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=39ff7c97ca920a5d" data-title="Coarse face" href="https://medlineplus.gov/images/PX0001HT_PRESENTATION.jpeg" id="PX0001HT_9" title="Show image">"coarse" facial features<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>.</p><p>Some people with Carney complex develop a rare tumor called psammomatous melanotic schwannoma. This tumor occurs in specialized cells called Schwann cells, which wrap around and insulate nerves. This tumor is usually benign, but in some cases it can become cancerous (malignant).</p><p>Almost all people with Carney complex have areas of unusual skin pigmentation. Brown skin spots called lentigines may appear anywhere on the body but tend to occur around the lips, eyes, or genitalia. In addition, some affected individuals have at least one blue-black mole called a blue nevus.</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">
|
||
<h2>Frequency</h2>
|
||
|
||
<section><div class="mp-content"><p>Carney complex is a rare disorder; fewer than 750 affected individuals have been identified.</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="causes">
|
||
<h2>Causes</h2>
|
||
|
||
<section><div class="mp-content"><p>Mutations in the <i><a data-pid="18347" href="https://medlineplus.gov/genetics/gene/prkar1a/">PRKAR1A</a></i> gene cause most cases of Carney complex. This gene provides instructions for making one part (subunit) of an enzyme called protein kinase A, which promotes cell growth and division (proliferation). The subunit produced from the <i>PRKAR1A</i> gene, called type 1 alpha, helps control whether protein kinase A is turned on or off.</p><p>Most mutations in the <i>PRKAR1A</i> gene that cause Carney complex result in an abnormal type 1 alpha subunit that is quickly broken down (degraded) by the cell. The lack of this subunit causes protein kinase A to be turned on more often than normal, which leads to uncontrolled cell proliferation. The signs and symptoms of Carney complex are related to the unregulated growth of cells in many parts of the body.</p><p>Some individuals with Carney complex do not have identified mutations in the <i>PRKAR1A</i> gene. In many of these cases, the disorder is associated with a specific region on the short (p) arm of chromosome 2, designated as 2p16. Researchers have not discovered the gene within this region that is responsible for Carney complex.</p></div>
|
||
</section>
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||
|
||
<section>
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||
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||
<div class="related-genes mp-exp exp-full">
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||
|
||
<h3>Learn more about the gene associated with Carney complex</h3>
|
||
|
||
<ul class="relatedmp">
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/gene/prkar1a/">PRKAR1A</a></li>
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||
|
||
|
||
</ul>
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||
|
||
</div>
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||
|
||
</section>
|
||
|
||
</div>
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||
<div class="mp-exp exp-full" data-bookmark="inheritance">
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||
<h2>Inheritance</h2>
|
||
|
||
<section><div class="mp- mp-content"><p>Carney complex is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 80 percent of cases, an affected person <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_1" title="Show image">inherits the mutation<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> from one affected parent. The remaining cases result 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="
|
||
" 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<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> in the gene and occur in people with no history of Carney complex in their family.</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="synonyms">
|
||
<h2>Other Names for This Condition</h2>
|
||
|
||
<section>
|
||
<ul class="bulletlist">
|
||
<li>Carney Syndrome</li> <li>LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome</li> <li>NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome</li>
|
||
</ul>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="resources">
|
||
<h2>Additional Information & Resources</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic Testing Information</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0406810/" target="TheNewWin">Genetic Testing Registry: Carney complex</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>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C2607929/" target="TheNewWin">Genetic Testing Registry: Carney complex, type 1</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>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C1854540/" target="TheNewWin">Genetic Testing Registry: Carney complex type 2</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>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic and Rare Diseases Information Center</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.info.nih.gov/diseases/1119/index" target="TheNewWin">Carney complex</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>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Clinical Trials</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://clinicaltrials.gov/search?cond=%22Carney complex%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>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/160980" target="TheNewWin">CARNEY COMPLEX, TYPE 1; CNC1</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28carney+complex%5BTIAB%5D%29+OR+%28carney+syndrome%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1800+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>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<ul>
|
||
|
||
<li>Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R,
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||
Rene-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A,
|
||
Kirschner LS, Bertagna X, Carney JA, Stratakis CA. Mutations in regulatory
|
||
subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase
|
||
(PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin
|
||
Endocrinol Metab. 2009 Jun;94(6):2085-91. doi: 10.1210/jc.2008-2333. Epub 2009
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||
Mar 17. <a href="https://pubmed.ncbi.nlm.nih.gov/19293268" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2690418/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas,
|
||
spotty pigmentation, and endocrine overactivity. Medicine (Baltimore). 1985
|
||
Jul;64(4):270-83. doi: 10.1097/00005792-198507000-00007. <a href="https://pubmed.ncbi.nlm.nih.gov/4010501" target="TheNewWin">Citation on PubMed</a></li>
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||
|
||
|
||
<li>Horvath A, Bertherat J, Groussin L, Guillaud-Bataille M, Tsang K, Cazabat L,
|
||
Libe R, Remmers E, Rene-Corail F, Faucz FR, Clauser E, Calender A, Bertagna X,
|
||
Carney JA, Stratakis CA. Mutations and polymorphisms in the gene encoding
|
||
regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. Hum
|
||
Mutat. 2010 Apr;31(4):369-79. doi: 10.1002/humu.21178. <a href="https://pubmed.ncbi.nlm.nih.gov/20358582" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2936101/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Horvath A, Bossis I, Giatzakis C, Levine E, Weinberg F, Meoli E,
|
||
Robinson-White A, Siegel J, Soni P, Groussin L, Matyakhina L, Verma S, Remmers E,
|
||
Nesterova M, Carney JA, Bertherat J, Stratakis CA. Large deletions of the PRKAR1A
|
||
gene in Carney complex. Clin Cancer Res. 2008 Jan 15;14(2):388-95. doi:
|
||
10.1158/1078-0432.CCR-07-1155. <a href="https://pubmed.ncbi.nlm.nih.gov/18223213" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Horvath A, Stratakis CA. Carney complex and lentiginosis. Pigment Cell
|
||
Melanoma Res. 2009 Oct;22(5):580-7. doi: 10.1111/j.1755-148X.2009.00613.x. Epub
|
||
2009 Jul 24. <a href="https://pubmed.ncbi.nlm.nih.gov/19650827" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3136757/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Kirschner LS. Use of mouse models to understand the molecular basis of
|
||
tissue-specific tumorigenesis in the Carney complex. J Intern Med. 2009
|
||
Jul;266(1):60-8. doi: 10.1111/j.1365-2796.2009.02114.x. <a href="https://pubmed.ncbi.nlm.nih.gov/19522826" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Mateus C, Palangie A, Franck N, Groussin L, Bertagna X, Avril MF, Bertherat J,
|
||
Dupin N. Heterogeneity of skin manifestations in patients with Carney complex. J
|
||
Am Acad Dermatol. 2008 Nov;59(5):801-10. doi: 10.1016/j.jaad.2008.07.032. Epub
|
||
2008 Sep 19. <a href="https://pubmed.ncbi.nlm.nih.gov/18804312" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Stratakis CA. Carney Complex. 2003 Feb 5 [updated 2023 Sep 21]. In: Adam MP,
|
||
Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors.
|
||
GeneReviews(R) [Internet]. Seattle (WA): University of Washington,
|
||
Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1286/
|
||
<a href="https://pubmed.ncbi.nlm.nih.gov/20301463" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
</ul>
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||
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||
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||
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<li><a href="https://medlineplus.gov/ency/article/007273.htm">Atrial myxoma</a></li>
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<li><a href="https://medlineplus.gov/ency/article/000704.htm">Pituitary tumor</a></li>
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