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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...
Shranjeno v:
| izdano v: | Eur J Hum Genet |
|---|---|
| Main Authors: | , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Springer International Publishing
2020
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| 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 |
| Oznake: |
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