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Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras

7 Apr 2021

Abstract excerpt

We read with great interest the European Molecular Genetics Quality Network practice guidelines for molecular genetic testing of congenital adrenal hyperplasia (CAH) due to CYP21A2 defects [ 1 ]. The authors address multiple important issues in the molecular genetic testing of CAH and provide valuable suggested standards based on extensive experience and practices from laboratories worldwide. While in general we...

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PMID: 33824469
DOI: 10.1038/s41431-021-00870-5

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