Article
Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure.
Andrology - 1 Sept 2015
Lima A C, Carvalho F, Gonçalves J, Fernandes S, Marques P I, Sousa M, Barros A, Seixas S, Amorim A, Conrad D F, Lopes A M
Abstract excerpt
The double sex and mab-3-related transcription factor 1 (DMRT1) gene has long been linked to sex-determining pathways across vertebrates and is known to play an essential role in gonadal development and maintenance of spermatogenesis in mice. In humans, the genomic region harboring the DMRT gene cluster has been implicated in disorders of sex development and recently DMRT1 deletions were shown to be associated...
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