Article
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.
American journal of medical genetics. Part A - 1 Jun 2006
Heinritz Wolfram, Zweier Christiane, Froster Ursula G, Strenge Sibylle, Kujat Annegret, Syrbe Steffen, Rauch Anita, Schuster Volker
Abstract excerpt
Mowat-Wilson syndrome (MWS) is a rare mental retardation-multiple congenital anomalies syndrome associated with typical facial dysmorphism. Patients can show a variety of other anomalies like short stature, microcephaly, Hirschsprung disease, malformations of the brain, seizures, congenital heart defects and urogenital anomalies. Mutations leading to haploinsufficiency of the ZFHX1B gene have been described as...
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