CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation
Author:
Publisher
Walter de Gruyter GmbH
Subject
Biochemistry (medical),Clinical Biochemistry,General Medicine
Link
https://www.degruyter.com/document/doi/10.1515/CCLM.2008.339/pdf
Reference33 articles.
1. Congenital Adrenal Hyperplasia
2. THE MOLECULAR GENETICS OF 21-HYDROXYLASE DEFICIENCY
3. Steroid disorders in children: Congenital adrenal hyperplasia and apparent mineralocorticoid excess
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1. The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes;Frontiers in Endocrinology;2023-05-31
2. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency;European Journal of Human Genetics;2020-07-02
3. A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature;Journal of Pediatric Genetics;2020-03-09
4. Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia;Clinical Biochemistry;2019-11
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