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Article

Lissencephaly: Expanded imaging and clinical classification.

American journal of medical genetics. Part A - 1 Jun 2017

Di Donato Nataliya, Chiari Sara, Mirzaa Ghayda M, Aldinger Kimberly, Parrini Elena, Olds Carissa, Barkovich A James, Guerrini Renzo, Dobyns William B

Abstract excerpt

Lissencephaly ("smooth brain," LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The LIS spectrum includes agyria, pachygyria, and subcortical band heterotopia. Our first classification of LIS and subcortical band heterotopia (SBH) was developed to distinguish between the first two genetic causes of LIS-LIS1...

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PMID: 28440899
DOI: 10.1002/ajmg.a.38245
PMCID: PMC5526446

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