New frameshift mutation in the 5?-reduct
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Ferraz, L�cio F�bio Caldas; Mathias Baptista, Maria Teresa; Maciel-Guerra, Andr�
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Article
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1999
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John Wiley and Sons
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English
⚖ 29 KB
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Male pseudohermaphroditism caused by steroid 5␣-reductase deficiency is an autosomal recessive disorder. The enzyme steroid 5␣-reductase 2 (encoded by the SRD5A2 gene) catalyses the conversion of testosterone to dihydrotestosterone, which is required for normal differentiation of the external male g