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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Detalhes bibliográficos
Publicado no:Endocr Connect
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Bioscientifica Ltd 2021
Assuntos:
Research
Acesso em linha: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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