Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

BACKGROUND: De novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. Here, we report the findings in four such trios. METHODS: The Deciphering Developmental Disorders study is using whole e...

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Detalles Bibliográficos
Autores principales: Hunt, David, Leventer, Richard J, Simons, Cas, Taft, Ryan, Swoboda, Kathryn J, Gawne-Cain, Mary, Magee, Alex C, Turnpenny, Peter D, Baralle, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
New Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251168/
https://www.ncbi.nlm.nih.gov/pubmed/25342064
http://dx.doi.org/10.1136/jmedgenet-2014-102798

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