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Article

A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.

Molecular genetics & genomic medicine - 1 Feb 2021

Lao Qizong, Mallappa Ashwini, Rueda Faucz Fabio, Joyal Elizabeth, Veeraraghavan Padmasree, Chen Wuyan, Merke Deborah P

Abstract excerpt

BACKGROUND: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disease of steroidogenesis that affects 1 in 15,000. Approximately, 10% of the CAH population also suffer from CAH-X, a connective tissue dysplasia consistent with hypermobility type Ehlers-Danlos syndrome (EDS). Most patients with CAH-X carry a contiguous gene deletion involving CYP21A2 encoding...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33332743
DOI: 10.1002/mgg3.1556
PMCID: PMC8077117

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