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...
Main Authors: | Tapper, William J. (Author), Foulds, Nicola (Author), Cross, Nicholas C. P. (Author), Aranaz, Paula (Author), Score, Joannah (Author), Hidalgo-Curtis, Claire (Author), Robinson, David O. (Author), Gibson, Jane (Author), Ennis, Sarah (Author), Temple, I. Karen (Author), Collins, Andrew (Author) |
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Format: | Article |
Language: | English |
Published: |
2014-01-31.
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Subjects: | |
Online Access: | Get fulltext |
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