XX males SRY negative: a confirmed cause of infertility


BACKGROUND SOX9 is a widely expressed transcription factor playing several relevant functions during development and essential for testes differentiation. It is considered to be the direct target gene of the protein encoded by SRY and its overexpression in an XX murine gonad can lead to male development in the absence of Sry. Recently, a family was reported… (More)
DOI: 10.1136/jmedgenet-2011-100036

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