NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
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Publisher
New York: Elsevier Inc
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Language
English
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Publisher
New York: Elsevier Inc
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We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD).
Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry of sex-specific markers was performed on patients’ gonads. The con...
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Full title
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5392598
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5392598
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ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2016.118
