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Birth of a healthy boy following preimplantation genetic diagnosis for congenital adrenal hyperplasia
Classical 3β-HSD deficiency due to mutations in the HSD3B2 gene is responsible for a rare form of congenital adrenal hyperplasia (CAH) and is identified by varying degrees of salt wasting. Preimplantation genetic diagnosis (PGD) was performed in a couple carrying mutation c.690 G>A in the HSD3B2...
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| Publicado no: | JBRA Assist Reprod |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Brazilian Society of Assisted Reproduction
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7169911/ https://ncbi.nlm.nih.gov/pubmed/32072793 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5935/1518-0557.20190085 |
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