Article
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
Human mutation - 1 Jul 2004
Dubourg Christèle, Lazaro Leïla, Pasquier Laurent, Bendavid Claude, Blayau Martine, Le Duff Franck, Durou Marie-Renée, Odent Sylvie, David Véronique
Abstract excerpt
Holoprosencephaly (HPE; 1 out of 16,000 live births; 1 out of 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 ventricle and cyclopia to clinically unaffected carriers in familial dominant autosomic HPE. The disease is genetically heterogeneous, but...
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