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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Detalles Bibliográficos
Autores principales: Baumgartner-Parzer, Sabina, Witsch-Baumgartner, Martina, Hoeppner, Wolfgang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Policy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7609334/
https://www.ncbi.nlm.nih.gov/pubmed/32616876
http://dx.doi.org/10.1038/s41431-020-0653-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7609334/
https://www.ncbi.nlm.nih.gov/pubmed/32616876
http://dx.doi.org/10.1038/s41431-020-0653-5

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