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The evolving role of whole-exome sequencing in the management of disorders of sex development

OBJECTIVE: Disorders of sex development (DSD) are defined as congenital conditions in which the development of chromosomal, gonadal and anatomical sex is atypical. Despite wide laboratory and imaging investigations, the etiology of DSD is unknown in over 50% of patients. METHODS: We evaluated the et...

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Detalles Bibliográficos
Autores principales: Tenenbaum-Rakover, Yardena, Admoni, Osnat, Elias-Assad, Ghadir, London, Shira, Noufi-Barhoum, Marie, Ludar, Hanna, Almagor, Tal, Zehavi, Yoav, Sultan, Charles, Bertalan, Rita, Bashamboo, Anu, McElreavey, Kenneth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8240709/
https://www.ncbi.nlm.nih.gov/pubmed/34009138
http://dx.doi.org/10.1530/EC-21-0019