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EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

Molecular genetic testing for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is offered worldwide and is of importance for differential diagnosis, carrier detection and adequate genetic counseling, particularly for family planning. In 2008 the European Molecular Genet...

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Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: Baumgartner-Parzer, Sabina, Witsch-Baumgartner, Martina, Hoeppner, Wolfgang
Format: Artigo
Jezik:Inglês
Izdano: Springer International Publishing 2020
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7609334/
https://ncbi.nlm.nih.gov/pubmed/32616876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0653-5
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