Associated Papers
Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.
Zhang H et al.
Heliyon, 2024
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Baumgartner-Parzer S et al.
European Journal of Human Genetics : Ejhg, 2020
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
21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.
Wang R et al.
Steroids, 2016
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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