EMQN Best Practice Guidelines for Molecular Genetic Testing and Reporting of 21-Hydroxylase Deficiency
July 2020
in “
European Journal of Human Genetics
”
Studysummary This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer