Results 181 to 184 of about 4,066 (184)

[Detection and characterization of the types of CYP21A1P/CYP21A2 and TNXA/TNXB fused genes by long-read sequencing among children with Steroid 21-hydroxylase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Qingxian Fu, Zhen Li, Shiyi Xu, Lingling Du, Huishu E, Limei Guan   +5 more
semanticscholar   +1 more source

Simple-Virilizing Congenital adrenal hyperplasia sustained by five mutations on the CYP21A2 gene

Biomedical Research and Therapy
Gloria Agrimonti, G. Spaggiari, S. Menabò, S. Vezzani, Elisa Magnani, Andrea Frasoldati, A. Granata, Daniele Santi   +7 more
semanticscholar   +1 more source

A Deleterious Frameshift Deletion Variant in Exon 5 of the CYP21A2 Gene Causes Classic Salt-Wasting Congenital Adrenal Hyperplasia

Current Genetic Medicine Reports
Newsha Molavi, S. Aghaei, Marziyeh Hoseinzadeh, Hossein KhanAhmad, M. Hashemipour, Mohammad Amin Tabatabaiefar   +5 more
semanticscholar   +1 more source

Accurate Diagnosis of Congenital Adrenal Hyperplasia due to CYP21A2 Variants Requires Promoter Analysis.

European Journal of Endocrinology
M. Schernthaner-Reiter, Stefan Riedl, B. Obermayer-Pietsch, M. Krebs, G. Vila, Stephanie Kleinle, H. Esterbauer, S. Baumgartner-Parzer   +7 more
semanticscholar   +1 more source