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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 h...

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Source

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Identifiers

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

Genes

TNXB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19921645-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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