Article
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Neurology - 14 Aug 2001
Leventer R J, Cardoso C, Ledbetter D H, Dobyns W B
Abstract excerpt
BACKGROUND: Classical lissencephaly is a disorder of neuroblast migration with most patients having mutations of either the LIS1 or DCX genes. Most patients with lissencephaly secondary to LIS1 mutations have a severe malformation consisting of generalized agyria and pachygyria. However, increasing experience suggests that the phenotypic spectrum is wider than previously thought. METHODS: The authors describe the...
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