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

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–Da...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: Lao, Qizong, Mallappa, Ashwini, Rueda Faucz, Fabio, Joyal, Elizabeth, Veeraraghavan, Padmasree, Chen, Wuyan, Merke, Deborah P.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2020
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8077117/
https://ncbi.nlm.nih.gov/pubmed/33332743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1556
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