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- W2020202205 abstract "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 2½‐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. © 2006 Wiley‐Liss, Inc." @default.
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- W2020202205 date "2006-05-10" @default.
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- W2020202205 title "A missense mutation in theZFHX1B gene associated with an atypical Mowat–Wilson syndrome phenotype" @default.
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- W2020202205 doi "https://doi.org/10.1002/ajmg.a.31267" @default.
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