Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations

Two megalencephaly (MEG) syndromes, megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyriapolydactyly-hydrocephalus (MPPH), have recently been defined on the basis of physical and neuroimaging features. Subsequently, exome sequencing of ten MEG cases identified de-novo postzy...

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Detalles Bibliográficos
Autores principales: Tapper, William J., Foulds, Nicola, Cross, Nicholas C. P., Aranaz, Paula, Score, Joannah, Hidalgo-Curtis, Claire, Robinson, David O., Gibson, Jane, Ennis, Sarah, Temple, I. Karen, Collins, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908952/
https://www.ncbi.nlm.nih.gov/pubmed/24497998
http://dx.doi.org/10.1371/journal.pone.0086940

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908952/
https://www.ncbi.nlm.nih.gov/pubmed/24497998
http://dx.doi.org/10.1371/journal.pone.0086940

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