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

Abstract 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 E...

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Detalhes bibliográficos

Principais autores:	Qizong Lao, Ashwini Mallappa, Fabio Rueda Faucz, Elizabeth Joyal, Padmasree Veeraraghavan, Wuyan Chen, Deborah P. Merke
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2021-02-01
Colecção:	Molecular Genetics & Genomic Medicine
Assuntos:	CAH congenital adrenal hyperplasia EDS Ehlers Danlos syndrome TNXB
Acesso em linha:	https://doi.org/10.1002/mgg3.1556
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