Associated Papers
Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Concolino P et al.
Molecular Diagnosis & Therapy, 2023
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
Liu Y et al.
Clinical Chemistry, 2022
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Prado MJ et al.
Frontiers in Pharmacology, 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
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Fernández CS et al.
Clinical Endocrinology, 2020
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree.
Liu J et al.
Molecular Medicine Reports, 2018
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development.
Bashamboo A et al.
Clinical Genetics, 2017
Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia.
Pallan PS et al.
Molecular Endocrinology (baltimore, Md.), 2015
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