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Translational Genetics for Diagnosis of Human Disorders of Sex Development

22 Jul 2013

Abstract excerpt

Disorders of sex development (DSDs) are congenital conditions with discrepancies between the chromosomal, gonadal, and phenotypic sex of the individual. Such disorders have historically been difficult to diagnose and cause great stress to patients and their families. Genetic analysis of human samples has been instrumental in elucidating the molecules and pathways involved in the development of the bipotential...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 23875799
DOI: 10.1146/annurev-genom-091212-153417

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