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Article

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

Birth defects research. Part C, Embryo today : reviews - 1 Dec 2016

Domenice Sorahia, Machado Aline Zamboni, Ferreira Frederico Moraes, Ferraz-de-Souza Bruno, Lerario Antonio Marcondes, Lin Lin, Nishi Mirian Yumie, Gomes Nathalia Lisboa, da Silva Thatiana Evelin, Silva Rosana Barbosa, Correa Rafaela Vieira, Montenegro Luciana Ribeiro, Narciso Amanda, Costa Elaine Maria Frade, Achermann John C, Mendonca Berenice Bilharinho

Abstract excerpt

Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to...

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PMID: 28033660
DOI: 10.1002/bdrc.21145
PMCID: PMC5347970

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