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Article

Causal heterogeneity in isolated lissencephaly

1 Jul 1992

Abstract excerpt

We report clinical, cytogenetic, and molecular studies in 65 patients with isolated lissencephaly sequence (ILS). All had type I lissencephaly of varying severity and a grossly normal cerebellum. Some had additional brain abnormalities. Facial appearance was essentially normal. All had severe to profound mental retardation, seizures, hypotonia that evolved into spasticity, and feeding difficulties. Clinical and...

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Identifiers

PMID: 1620349
DOI: 10.1212/wnl.42.7.1375

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