OR15-07 Novel Genes Involved in Sex Differentiation Identified by Whole-Exome Sequencing in a Cohort of Children with Disorders of Sex Development

Background: Disorders of sex development (DSD) are classified as a congenital discrepancy between external genitalia, gonadal and chromosomal sex. Despite extensive laboratory and imaging investigations, the etiology of DSD is unknown in more than 50% of patients and the diagnosis is often delayed t...

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Dades bibliogràfiques
Publicat a:J Endocr Soc
Autors principals: Rakover, Yardena Tenenbaum, Admoni, Osnat, Assad, Ghadir Elias, London, Shira, Barhoum, Marie Noufi, Ludar, Hana, Almagor, Tal, Bertalan, Rita, Bashamboo, Anu, McElreavey, Prof, Kenneth
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2020
Matèries:
Pediatric Endocrinology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208792/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.280
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