Associated Papers
17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.
Siklar Z et al.
Endocrine, 2024
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency.
Mo EY et al.
Endocrinology and Metabolism (seoul, Korea), 2018
Combined 17α-hydroxylase/17,20-lyase deficiency with short stature: case study.
Ma L et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2016
Clinical and molecular review of atypical congenital adrenal hyperplasia.
Sahakitrungruang T
Annals of Pediatric Endocrinology & Metabolism, 2015
CYP17A1 gene mutations and hypertension variations found in 46, XY females with combined 17α-hydroxylase/17, 20-lyase deficiency.
Wang YP et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2014
A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency.
Lee ES et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2013
[A compound heterozygous mutation in CYP17A1 gene in a female subject with partial 17α-hydroxylase/17, 20 lyase deficiency].
Jiang Y et al.
Zhonghua Yi Xue Za Zhi, 2011
Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient.
Costenaro F et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
Novel P450c17 mutation H373D causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
Sahakitrungruang T et al.
The Journal of Clinical Endocrinology and Metabolism, 2009