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17α-hydroxylase/17,20-lyase deficiency in congenital adrenal hyperplasia: A case report

Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene located on chromosome 10q24.3, which leads to a deficiency in 17α-hydroxylase/17,20-lyase. The disorder is characterized by low blood l...

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Publicat a:Mol Med Rep
Autors principals: Xu, Simiao, Hu, Shuhong, Yu, Xuefeng, Zhang, Muxun, Yang, Yan
Format: Artigo
Idioma:Inglês
Publicat: D.A. Spandidos 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5355729/
https://ncbi.nlm.nih.gov/pubmed/27959413
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2016.6029
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