TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis

Abstract

TUBA1A mutations cause a wide spectrum of lissencephaly and brain malformations. Here, we report two patients with severe cortical dysgeneses, one with an extremely thin cerebral parenchyma apparently looking like hydranencephaly and the other with lissencephaly accompanied by marked hydrocephalus, both harbouring novel de novo missense mutations of TUBA1A… (More)
DOI: 10.1038/srep15165

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