Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)

Disorders of sex development (DSDs) are a diverse group of conditions where the chromosomal, gonadal or anatomical sex can be atypical. The highly heterogeneous nature of this group of conditions often makes determining a genetic diagnosis challenging. Prior to next generation sequencing (NGS) techn...

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Bibliographic Details
Main Authors: L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen, T R P Cole
Format: Article
Language:English
Published: Bioscientifica 2019-02-01
Series:Endocrine Connections
Subjects:
Online Access:https://ec.bioscientifica.com/view/journals/ec/8/2/EC-18-0376.xml