EMQN Best Practice Guidelines for Molecular Genetic Testing and Reporting of 21-Hydroxylase Deficiency

    Sabina Baumgartner‐Parzer, Martina Witsch‐Baumgartner, Wolfgang Hoeppner
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    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.
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