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Article

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)

22 Jan 2019

Abstract excerpt

Disorders of sex development (DSDs) are a diverse group of conditions where the chromosomal, gonadal or anatomical sex can be atypical. The highly heterogeneous nature of this group of conditions often makes determining a genetic diagnosis challenging. Prior to next generation sequencing (NGS) technologies, genetic diagnostic tests were only available for a few of the many DSD-associated genes, which consequently...

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PMID: 30668521
DOI: 10.1530/ec-18-0376

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