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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Dades bibliogràfiques
Publicat a:Endocr Connect
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Bioscientifica Ltd 2021
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8240709/
https://ncbi.nlm.nih.gov/pubmed/34009138
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EC-21-0019
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