title: A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.
abstract: 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 the underlying cause of this condition. We report on the clinical findings in a 2(1/2)-year-old boy with some aspects out of the MWS-spectrum in addition to unusual anomalies and a novel missense mutation in the ZFHX1B gene.
authors: Institute of Human Genetics, University of Leipzig--Medical Faculty, Leipzig, Germany. heinw@medizin.uni-leipzig.de
authors: Wolfram
authors: W
authors: Heinritz
authors: Christiane
authors: C
authors: Zweier
authors: Ursula G
authors: UG
authors: Froster
authors: Sibylle
authors: S
authors: Strenge
authors: Annegret
authors: A
authors: Kujat
authors: Steffen
authors: S
authors: Syrbe
authors: Anita
authors: A
authors: Rauch
authors: Volker
authors: V
authors: Schuster