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Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia
Some variants that cause autosomal recessive congenital adrenal hyperplasia (CAH) also cause hypermobility type Ehlers-Danlos syndrome (EDS) due to the monoallelic presence of a chimera disrupting two flanking genes: CYP21A2, encoding 21-hydroxylase, necessary for cortisol and aldosterone biosynthes...
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| Pubblicato in: | Hum Mutat |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2016
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4983206/ https://ncbi.nlm.nih.gov/pubmed/27297501 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23028 |
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