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 co nditions 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...

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Autori principali:	Yardena Tenenbaum-Rakover, Osnat Admoni, Ghadir Elias-Assad, Shira London, Marie Noufi-Barhoum, Hanna Ludar, Tal Almagor, Yoav Zehavi, Charles Sultan, Rita Bertalan, Anu Bashamboo, Kenneth McElreavey
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Bioscientifica 2021-06-01
Serie:	Endocrine Connections
Soggetti:	disorders of sex development whole-exome sequencing bone morphogenetic protein 4 insulin-like 3 hormone receptor
Accesso online:	https://ec.bioscientifica.com/view/journals/ec/10/6/EC-21-0019.xml
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The evolving role of whole-exome sequencing in the management of disorders of sex development

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