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Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation.

Brain & development - 1 Mar 2013

Okumura Akihisa, Hayashi Masaharu, Tsurui Hiromichi, Yamakawa Yoko, Abe Shinpei, Kudo Takahiro, Suzuki Ryuyo, Shimizu Toshiaki, Shimojima Keiko, Yamamoto Toshiyuki

Abstract excerpt

We described the clinical course and pathological findings in a child with TUBA1A mutation. MRI revealed marked ventricular dilation with thin cortex, poorly differentiated basal ganglia, agenesis of corpus callosum, cerebellar hypoplasia with preserved vermis at 2 months of age. No gain of developmental milestones was observed until she died with respiratory failure at 23 months of age. A de novo missense...

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PMID: 22633752
DOI: 10.1016/j.braindev.2012.05.006

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