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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Detalles Bibliográficos
Autores principales: Hughes, L A, McKay-Bounford, K, Webb, E A, Dasani, P, Clokie, S, Chandran, H, McCarthy, L, Mohamed, Z, Kirk, J M W, Krone, N P, Allen, S, Cole, T R P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373624/
https://www.ncbi.nlm.nih.gov/pubmed/30668521
http://dx.doi.org/10.1530/EC-18-0376

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