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Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility

Isolated 17,20-lyase deficiency may be caused by mutations in the CYP17A1 (coding for cytochrome P450c17), POR (coding for cytochrome P450 oxidoreductase) and CYB5A (coding for microsomal cytochrome b5) genes. Of these, mutations in the CYB5A gene have thus far only been described in genetic males w...

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Detalles Bibliográficos
Autores principales:	Leung, Mei Tik, Cheung, Hoi Ning, Iu, Yan Ping, Choi, Cheung Hei, Tiu, Sau Cheung, Shek, Chi Chung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007803/ https://www.ncbi.nlm.nih.gov/pubmed/32051920 http://dx.doi.org/10.1210/jendso/bvz016

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