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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
JAMA 270:2838-2842, Dobyns,W.B.,et al, 1993
See this aricle in Pubmed

Article Abstract
Deletions of the lissencephaly critical region in chromosome 17p13.3 including LIS1,appear to be the most frequent cause of classical lissencephaly.Molecular cytogenetic studies,particularly fluorescence in situ hybridization,should be performed in all such patients.LIS1 shows homology to genes involved in signal transduction,which may be its function in development of the telencephalon.Other genetic causes of classical lissencephaly and genetic and nongenetic causes of other types of lissencepahly exist and are under study.
 
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chromosomal abnormality
developmental abnormality of brain
gene
genetic counselling
genetic neurologic disorders
lissencephaly
malformation,CNS,congenital
mental retardation
Miller-Dieker syndrome
molecular genetics

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