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Publikováno v:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 7(6)
17-β-Hydroxysteroid dehydrogenase type 3 deficiency is a rare autosomal recessive cause of 46,XY disorder of sex development. Worldwide, about 30 mutations in the hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3) gene have been reported, involving
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b0506e7b817902077725194f0c116898
https://pubmed.ncbi.nlm.nih.gov/23796702
https://pubmed.ncbi.nlm.nih.gov/23796702
