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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...
Autores principales: | Rakover, Yardena Tenenbaum, Admoni, Osnat, Assad, Ghadir Elias, London, Shira, Barhoum, Marie Noufi, Ludar, Hana, Almagor, Tal, Bertalan, Rita, Bashamboo, Anu, McElreavey, Prof, Kenneth |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208792/ http://dx.doi.org/10.1210/jendso/bvaa046.280 |
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