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Challenges of diagnostic exome sequencing in an inbred founder population

Exome sequencing was used as a diagnostic tool in a Roma/Gypsy family with three subjects (one deceased) affected by lissencephaly with cerebellar hypoplasia (LCH), a clinically and genetically heterogeneous diagnostic category. Data analysis identified high levels of unreported inbreeding, with mul...

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Detalles Bibliográficos
Autores principales:	Azmanov, Dimitar N, Chamova, Teodora, Tankard, Rick, Gelev, Vladimir, Bynevelt, Michael, Florez, Laura, Tzoneva, Dochka, Zlatareva, Dora, Guergueltcheva, Velina, Bahlo, Melanie, Tournev, Ivailo, Kalaydjieva, Luba
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2013
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865571/ https://www.ncbi.nlm.nih.gov/pubmed/24498604 http://dx.doi.org/10.1002/mgg3.7

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