A Novel Compound Heterozygous CYP17A1 Variant Causes 17α-Hydroxylase/17, 20-Lyase Deficiency

Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive diseases characterized by enzyme deficiencies, within steroid hormone anabolism, which lead to disorders in cortisol synthesis. The 17α-hydroxylase/17,20-lyase deficiency (17-OHD) is an uncommon form of CAH c...

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Publicat a:Front Genet
Autors principals: Chen, Hong, Yuan, Ke, Zhang, Bingtao, Jia, Zexiao, Chen, Chun, Zhu, Yilin, Sun, Yaping, Zhou, Hui, Huang, Wendong, Liang, Li, Yan, Qingfeng, Wang, Chunlin
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2019
Matèries:
Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6817513/
https://ncbi.nlm.nih.gov/pubmed/31695722
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00996
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