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Article

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

American journal of medical genetics. Part A - 1 Sept 2011

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

Abstract excerpt

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 problems, and epilepsy. There are acquired and genetic causes of polymicrogyria, but most patients with a presumed...

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Identifiers

PMID: 21834044
DOI: 10.1002/ajmg.a.34165
PMCID: PMC3616765

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Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.PMID 21834044Read ↗

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Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.Semantic proximity Read ↗

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Exome Sequencing and the Identification of New Genes and Shared Mechanisms in PolymicrogyriaSemantic proximity Read ↗

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