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Article

A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria.

Pediatric neurology - 1 Jul 2011

Luo Rong, Yang Hye Min, Jin Zhaohui, Halley Dicky J J, Chang Bernard S, MacPherson Lesley, Brueton Louise, Piao Xianhua

Abstract excerpt

Bilateral frontoparietal polymicrogyria is an autosomal recessive inherited human brain malformation with abnormal cortical lamination. The affected cortex appears to consist of numerous small gyri, with scalloping of the cortical-white matter junction. There are associated white matter, brain stem, and cerebellar changes. Affected individuals manifest mental retardation, language impairment, motor developmental...

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Identifiers

PMID: 21723461
DOI: 10.1016/j.pediatrneurol.2011.02.004
PMCID: PMC3135102

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