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Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development

The steroid 5α-reductase type II enzyme catalyzes the conversion of testosterone (T) to dihydrotestosterone (DHT), and its deficiency leads to undervirilization in 46,XY individuals, due to an impairment of this conversion in genital tissues. Molecular analysis in the steroid 5α-reductase type II ge...

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Detalles Bibliográficos
Autores principales: de Calais, Flávia Leme, Soardi, Fernanda Caroline, Petroli, Reginaldo José, Lusa, Ana Letícia Gori, de Paiva e Silva, Roberto Benedito, Maciel-Guerra, Andréa Trevas, Guerra-Júnior, Gil, de Mello, Maricilda Palandi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Diversity Preservation International (MDPI) 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3257141/
https://www.ncbi.nlm.nih.gov/pubmed/22272144
http://dx.doi.org/10.3390/ijms12129471