Associated Papers
Pathogenicity of Congenital Adrenal Hyperplasia Induced by the p.P377L Mutation of CYP11B1.
Ma G et al.
Biochemical Genetics, 2024
Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.
Tang S et al.
Endocrine, 2024
Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Lu WL et al.
World Journal of Pediatrics : Wjp, 2024
Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.
Liu H et al.
Endocrine, 2024
Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.
Sun B et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants.
Fylaktou I et al.
Hormones (athens, Greece), 2022
Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review.
Alsanea MN et al.
Cureus, 2022
Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia.
Li Z et al.
Bmc Endocrine Disorders, 2021
Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency.
Yildiz M et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia.
Wei C et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2021
Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.
Karlekar MP et al.
Clinical Endocrinology, 2021
Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency.
Zhou Q et al.
Frontiers in Pediatrics, 2020
Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review.
Wang D et al.
Journal of Ovarian Research, 2018
Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.
Kandemir N et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Bulsari K et al.
Endocrine, 2017
Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report.
Charnwichai P et al.
Bmc Endocrine Disorders, 2016
Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency.
Wang X et al.
Steroids, 2015
A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency.
Zhang M et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2013
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
Peter M et al.
Hormone Research, 1999