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

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:
next generation sequencing (NGS)
disorders of sex development (DSD)
gene
variant
Online Access:https://ec.bioscientifica.com/view/journals/ec/8/2/EC-18-0376.xml

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