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Review disorders of sex development: The evolving role of genomics in diagnosis and gene discovery.

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

Croft Brittany, Ayers Katie, Sinclair Andrew, Ohnesorg Thomas

Abstract excerpt

Disorders of Sex Development (DSDs) are a major paediatric concern and are estimated to occur in around 1.7% of all live births (Fausto-Sterling, Sexing the Body: Gender Politics and the Construction of Sexuality, Basic Books, New York, 2000). They are often caused by the breakdown in the complex genetic mechanisms that underlie gonadal development and differentiation. Having a genetic diagnosis can be important...

Topics

Animals
DNA Copy Number Variations
Disorders of Sex Development
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Testing
Genomics
Gonadal Disorders
High-Throughput Nucleotide Sequencing
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sexual Development

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PMID: 28033663
DOI: 10.1002/bdrc.21148

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