Article
A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene.
The Turkish journal of pediatrics - 1 Jan 2000
Meral Cihan, Malbora Bariy, Celikel Fatih, Aydemir Gökhan, Süleymanoğlu Selami, Zollino Marcella, Derbent Murat
Abstract excerpt
Mowat-Wilson syndrome (MWS) is characterized by severe mental retardation with seizures, specific facial dysmorphism, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations. The cause of MWS is a de novo mutation in the ZEB2 gene. This report describes a Turkish boy who was clinically diagnosed with MWS and had his diagnosis confirmed by molecular analysis of the ZEB2...
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