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Article

Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development

9 May 2012

Abstract excerpt

OBJECTIVE: Ovotesticular disorder of sexual development (DSD) is an unusual form of DSD, characterized by the coexistence of testicular and ovarian tissue in the same individual. In a subset of patients, ovotesticular DSD is caused by 46,XX/46,XY chimerism or mosaicism. To date, only a few monogenetic causes are known to be associated with XX and XY ovotesticular DSD. DESIGN AND METHODS: Clinical, hormonal, and...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 22573722
DOI: 10.1530/eje-12-0136

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