Associated Papers
Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report.
Zhang Y et al.
Medicine, 2023
Congenital adrenal hyperplasia disorder due to 17 α-hydroxylase deficiency: a case report.
Tian Y et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2023
Mutated CYP17A1 promotes atherosclerosis and early-onset coronary artery disease.
Wu TT et al.
Cell Communication and Signaling : Ccs, 2023
Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.
Bao M et al.
Journal of Medical Genetics, 2020
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
[17α-Hydroxylase deficiency with severe hypertension as the initial symptom in a child].
Wei HL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018
Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.
Kim JH et al.
Molecular and Cellular Endocrinology, 2017
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
Lhota F et al.
Clinical Genetics, 2016
A case of 17 alpha-hydroxylase deficiency.
Kim SM et al.
Clinical and Experimental Reproductive Medicine, 2015
Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.
Yang X et al.
Plos One, 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 review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
Kim YM et al.
Metabolism: Clinical and Experimental, 2014
[17-alpha hydroxylase deficiency. A case accompanied by testicular feminization].
Kondo T et al.
Saishin Igaku. Modern Medicine, 1970