Associated Papers
Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency.
Tantirukdham N et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
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
Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency.
Katsumata N et al.
Metabolism: Clinical and Experimental, 2010
Intronic polymorphisms of cytochromes P450.
Ingelman-Sundberg M et al.
Human Genomics, 2010
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
Select a paper to view details