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Article

The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.

American journal of medical genetics. Part A - 1 Dec 2009

Chen Wuyan, Kim Mimi S, Shanbhag Sujata, Arai Andrew, VanRyzin Carol, McDonnell Nazli B, Merke Deborah P

Abstract excerpt

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 gene density termed the RCCX module. The module has multiple pseudogenes as well as tandem repeat sequences that...

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Identifiers

PMID: 19921645
DOI: 10.1002/ajmg.a.33092
PMCID: PMC2963110

Genes

TNXB

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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