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Clin Genet. 1996 Dec;50(6):498-501.

A new autosomal recessive syndrome of pachygyria.

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1
Child Developmental Center, Hasharon Hospital-Gold Medical Center, Petah-Tiqva, Israel.

Abstract

Pachygyria is a rare development disorder resulting from impaired neuronal migration. Usually, it is a sporadic phenomenon, but rare dominant or autosomal recessive syndromes are known. This report describes a family in which the parents are first cousins and three of the siblings suffer from moderate mental retardation, pachygyria and strabismus. It is suggested that this is a distinct type of autosomal recessive pachygyria.

PMID:
9147882
[Indexed for MEDLINE]
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