The Phenotypic Spectrum of Contiguous Deletion of CYP21A2 and Tenascin XB: Quadricuspid Aortic Valve and Other Midline Defects

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disorder and is the most common cause of ambiguous genitalia in the newborn. The genes encoding 21-hydroxylase, CYP21A2, and tenascin-X (TNX), TNXB, are located within the HLA complex, in a region of high...

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Sonraí Bibleagrafaíochta
Main Authors: Chen, Wuyan, Kim, Mimi S., Shanbhag, Sujata, Arai, Andrew, VanRyzin, Carol, McDonnell, Nazli B., Merke, Deborah P.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2009
Ábhair:
Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2963110/
https://ncbi.nlm.nih.gov/pubmed/19921645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33092
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