Article
[Genetic study of holoprosencephaly].
Annales de biologie clinique - 1 Jan 2000
Dubourg C, Lazaro L, Blayau M, Pasquier L, Durou M-R, Odent S, David V
Abstract excerpt
Holoprosencephaly (1/16,000 live births; 1/250 conceptuses) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, affecting both the forebrain and the face. Clinical expressivity is variable, ranging from a single cerebral ventricule and cyclopia to clinically unaffected carriers in familial dominant autosomic holoprosencephaly. The disease is genetically heterogeneous but...
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