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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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| Główni autorzy: | , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
2009
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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