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New Genomic Technologies: An Aid for Diagnosis of Disorders of Sex Development

13 May 2015

Abstract excerpt

The Chicago Consensus Conference of 2005 defined Disorders of Sex Development (DSD) as "congenital conditions in which the development of chromosomal, gonadal or anatomic sex is atypical." DSD diagnoses are difficult to establish. A lack of standardization of anatomical and endocrine phenotyping and the limited number of known DSD genes and genotype/correlation has long hampered the field, leaving many patients...

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PMID: 25970709
DOI: 10.1055/s-0035-1548831

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