Article
Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum.
Prenatal diagnosis - 1 Apr 2004
Espinosa-Parrilla Yolanda, Encha-Razavi Férechté, Attié-Bitach Tania, Martinovic Jelena, Morichon-Delvallez Nicole, Munnich Arnold, Vekemans Michel, Lyonnet Stanislas, Amiel Jeanne
Abstract excerpt
OBJECTIVE: Agenesis of the corpus callosum (ACC) is the most common malformation of the central nervous system and may be associated with mental retardation. ACC is found in 40% of the cases of Mowat-Wilson syndrome (MWS), a polytopic embryonic defect including a distinctive facial gestalt, severe mental retardation, epilepsy and postnatal microcephaly as constant features. Other manifestations involve...
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