A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature

This is the first case report in Oman and the Gulf region of a 17-β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency with a novel mutation in the HSD17B3 gene that has not been previously described in the medical literature. An Omani child was diagnosed with 17-β-HSD3 deficiency and was fo...

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Détails bibliographiques
Publié dans:Oman Med J
Auteurs principaux: Al-Sinani, Aisha, Mula-Abed, Waad-Allah S., Al-Kindi, Manal, Al-Kusaibi, Ghariba, Al-Azkawi, Hanan, Nahavandi, Nahid
Format: Artigo
Langue:Inglês
Publié: OMJ 2015
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4412451/
https://ncbi.nlm.nih.gov/pubmed/25960839
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5001/omj.2015.27
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