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Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
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Frontiers in Endocrinology, 2021
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
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European Journal of Human Genetics : Ejhg, 2020
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
Concolino P et al.
Molecular Diagnosis & Therapy, 2018
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
CYP21A2 intronic variants causing 21-hydroxylase deficiency.
Concolino P et al.
Metabolism: Clinical and Experimental, 2017
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
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Gene symbol: CYP21A2. Disease: Non-classic 21-Hydroxylase deficiency.
Capoluongo E et al.
Human Genetics, 2008
Novel human pathological mutations. Gene Symbol: CYP21A2. Disease: Non-classic 21-hydroxylase deficiency.
Concolino P et al.
Human Genetics, 2007
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