Associated Papers
Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency
İsakoca M et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
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 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
Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.
Karlekar MP et al.
Clinical Endocrinology, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1.
Zacharieva S et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2019
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
Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.
Mooij CF et al.
Clinical Endocrinology, 2015
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
Menabò S et al.
European Journal of Human Genetics : Ejhg, 2014
A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism.
Reisch N et al.
The Journal of Clinical Endocrinology and Metabolism, 2013