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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Podrobná bibliografie
Vydáno v:JBRA Assist Reprod
Hlavní autoři: Reihani-Sabet, Fakhredin, Eftekhari-Yazdi, Poopak, Boroujeni, Parnaz Borjian, Saffari, Javad Roodgar, Almadani, Navid, Boloori, Shirin, Zamanian, Mohammad Reza
Médium: Artigo
Jazyk:Inglês
Vydáno: Brazilian Society of Assisted Reproduction 2020
Témata:
Case Report
On-line přístup: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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