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SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

BACKGROUND: The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)). DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have...

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Detalles Bibliográficos
Autores principales:	Hersmus, Remko, Stoop, Hans, Turbitt, Erin, Oosterhuis, J Wolter, Drop, Stenvert LS, Sinclair, Andrew H, White, Stefan J, Looijenga, Leendert HJ
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3538515/ https://www.ncbi.nlm.nih.gov/pubmed/23157850 http://dx.doi.org/10.1186/1471-2350-13-108

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