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New autosomal-dominant partial epilepsy syndrome

โœ Scribed by Ingrid E. Scheffer; Ian J. Hopkins; A.Simon Harvey; Samuel F. Berkovic


Book ID
119173401
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
123 KB
Volume
11
Category
Article
ISSN
0887-8994

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We report on a family in which a previously undescribed acrofacial dysostosis syndrome is segregating as an autosomal dominant trait. Craniofacial manifestations are those of mild mandibulofacial dysostosis and are quite constant among affected relatives. The acral abnormalities are quite variable,