Yüklüyor......
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...
Kaydedildi:
| Yayımlandı: | Hum Mutat |
|---|---|
| Asıl Yazarlar: | , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2016
|
| Konular: | |
| Online Erişim: | 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 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|