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Article

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

Brain : a journal of neurology - 1 Feb 2013

Cushion Thomas D, Dobyns William B, Mullins Jonathan G L, Stoodley Neil, Chung Seo-Kyung, Fry Andrew E, Hehr Ute, Gunny Roxana, Aylsworth Arthur S, Prabhakar Prab, Uyanik Gökhan, Rankin Julia, Rees Mark I, Pilz Daniela T

Abstract excerpt

Polymicrogyria and lissencephaly are causally heterogeneous disorders of cortical brain development, with distinct neuropathological and neuroimaging patterns. They can be associated with additional structural cerebral anomalies, and recurrent phenotypic patterns have led to identification of recognizable syndromes. The lissencephalies are usually single-gene disorders affecting neuronal migration during cerebral...

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PMID: 23361065
DOI: 10.1093/brain/aws338

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