A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia
A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia
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China (Republic : 1949- ): Elsevier B.V
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Language
English
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China (Republic : 1949- ): Elsevier B.V
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Abstract The 5α-reductase type 2 deficiency is a rare autosomal recessive 46,XY disorder of sex development caused by the mutated 5α-reductase type 2 (SRD5A2) gene. In this disease, defective conversion of testosterone to dihydrotestosterone leads to variable presentations of male ambiguous genitalia during fetal development. The most crucial clini...
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A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia
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TN_cdi_doaj_primary_oai_doaj_org_article_d9209d0336b14c19b02b9f2a0d4857fc
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d9209d0336b14c19b02b9f2a0d4857fc
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ISSN
1607-551X
E-ISSN
2410-8650
DOI
10.1016/j.kjms.2011.10.011
