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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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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2020
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| Assuntos: | |
| Acesso em linha: | 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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