Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynaecology,Reproductive Medicine
Reference16 articles.
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3. Serum 21-deoxycortisol, 17-hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11-beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency;Tonetto-Fernandes;J Clin Endocrinol Metab,2006
4. Disorders of steroid 11β-hydroxylase isozymes;White;Endocr Rev,1994
5. Mutations in CYP11B1 gene: phenotype-genotype correlations;Zhu;Am J Med Genet A,2003
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1. Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B1 variant causing 11β-Hydroxylase deficiency in a Chinese patient;Frontiers in Endocrinology;2023-11-13
2. Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency;World Journal of Pediatrics;2023-07-24
3. A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency;Laboratory Medicine;2022-12-09
4. Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants;Hormones;2021-10-26
5. Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review;Journal of Ovarian Research;2018-09-17
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