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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Bibliographic Details

Published in:	Molecular Genetics & Genomic Medicine
Main Authors:	Qizong Lao, Ashwini Mallappa, Fabio Rueda Faucz, Elizabeth Joyal, Padmasree Veeraraghavan, Wuyan Chen, Deborah P. Merke
Format:	Article
Language:	English
Published:	Wiley 2021-02-01
Subjects:	CAH congenital adrenal hyperplasia EDS Ehlers Danlos syndrome TNXB
Online Access:	https://doi.org/10.1002/mgg3.1556