Whole-Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria

Polymicrogyria is a disorder of neuronal development resulting in structurally abnormal cerebral hemispheres characterized by over-folding and abnormal lamination of the cerebral cortex. Polymicrogyria is frequently associated with severe neurologic deficits including intellectual disability, motor...

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Main Authors: Murdock, David R., Clark, Gary D., Bainbridge, Matthew N., Newsham, Irene, Wu, Yuan-Qing, Muzny, Donna M., Cheung, Sau Wai, Gibbs, Richard A., Ramocki, Melissa B.
Format: Artigo
Language:Inglês
Published: 2011
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3616765/
https://ncbi.nlm.nih.gov/pubmed/21834044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34165
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