Associated Papers
A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.
Janot C et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
CAH due to 11β-hydroxylase deficiency - same same but different!
du Toit T et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Precocious puberty in male with hypertension and hypokalemia; a definite diagnostic clue for 11β hydroxylase deficiency CAH.
Pande M et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2025
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
Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency.
Zhou Q et al.
Frontiers in Pediatrics, 2020
46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.
Baronio F et al.
International Journal of Molecular Sciences, 2019
Insights on the phenotypic heterogenity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families.
Valadares LP et al.
Endocrine, 2018
Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.
Bulsari K et al.
Hormones (athens, Greece), 2018
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Khattab A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency.
Wang X et al.
Steroids, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients.
Soardi FC et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
[11beta-hydroxylase deficiency].
Mello MP et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004