Associated Papers
Computing pathogenicity of mutations in human cytochrome P450 superfamily.
Mondal S et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
CYP17A1 Pathogenic Variants in 26 Chinese Patients With 17α-Hydroxylase Deficiency by Targeted Long-Read Sequencing.
Cao Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.
Siklar Z et al.
Endocrine, 2024
Phenotypic Heterogeneity and Fertility Potential of Patients With 17-Hydroxylase/17,20-lyase Deficiency.
Xu Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature.
Maheshwari M et al.
Journal of the Endocrine Society, 2022
An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature.
Liao Q et al.
Frontiers in Endocrinology, 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
[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
46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis.
Papi G et al.
Case Reports in Endocrinology, 2018
Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign.
Çamtosun E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect.
Han B et al.
Endocrine, 2016
17-hydroxylase/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development.
Deeb A et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
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
Congenital Adrenal Hyperplasia due to 17-alpha-hydoxylase/17,20-lyase Deficiency Presenting with Hypertension and Pseudohermaphroditism: First Case Report from Oman.
Mula-Abed WA et al.
Oman Medical Journal, 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
Rare missense P450c17 (CYP17A1) mutation in exon 1 as a cause of 46,XY disorder of sexual development: implications of breast tissue 'unresponsiveness' despite adequate estradiol substitution.
Athanasoulia AP et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 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
A single amino acid residue, Ala 105, confers 16alpha-hydroxylase activity to human cytochrome P450 17alpha-hydroxylase/17,20 lyase.
Swart AC et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2010
A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
Brooke AM et al.
The Journal of Clinical Endocrinology and Metabolism, 2006