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J Med Genet. 1989 Apr;26(4):274-6.

Holoprosencephaly: variation of expression in face and brain in three sibs.

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  • 1Department of Neurology, University Hospital Leiden, The Netherlands.

Abstract

A family is described containing three sibs with holoprosencephaly. They showed a striking diversity of both cerebral and facial abnormalities. Autosomal recessive inheritance seems most likely. Because of the great variety in expression of this disorder, it is of importance for genetic counselling to examine both sibs and parents.

PMID:
2751762
PMCID:
PMC1017303
[PubMed - indexed for MEDLINE]
Free PMC Article
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