Associated Papers
17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.
Siklar Z et al.
Endocrine, 2024
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.
Tang Y et al.
Endocrine Connections, 2023
A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.
Beştaş A et al.
Endocrine, 2022
Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients.
Zhang D et al.
Frontiers in Endocrinology, 2022
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.
Shi M et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2014
Identifying a novel mutation of CYP17A1 gene from five Chinese 17α-hydroxylase/17, 20-lyase deficiency patients.
Han B et al.
Gene, 2013
CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency.
Yao F et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2013
Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency.
Tian Q et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012
Rare hypertension as a result of 17alpha-hydroxylase deficiency.
Wang W et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
[New compound heterozygous mutation causes partial combined 17 alpha-hydroxylase/17,20-lyase deficiency].
Tao H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007