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
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
Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing.
Künstner A et al.
Haematologica, 2022
34788985 (PubMed )
Supplement: 2021_279631_KUNSTNER_TABS5_SUPPL.xlsx › Variants
Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review.
Alsanea MN et al.
Cureus, 2022
Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.
Karlekar MP et al.
Clinical Endocrinology, 2021
Correction: 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, 2020
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
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
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