Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report

BACKGROUND: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency (11β-OHD) is a rare form of CAH associated with low renin hypertension, hypokalemia, hyperandrogenemia and ambiguous genitalia in affected females. Herein we describe the clinical, hormonal and molecular chara...

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Bibliografiske detaljer
Udgivet i:BMC Endocr Disord
Main Authors: Charnwichai, Pattaranatcha, Yeetong, Patra, Suphapeetiporn, Kanya, Supornsilchai, Vichit, Sahakitrungruang, Taninee, Shotelersuk, Vorasuk
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2016
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4912772/
https://ncbi.nlm.nih.gov/pubmed/27316665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12902-016-0118-6
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