Mikrozephalie, mentale Retardierung, und unterschiedliche Gesichtsveränderungen, mit und ohne Morbus Hirschsprung ist eine autosomal rezessive Erkrankung, die durch Mutationen im ZEB2-Gen hervorgerufen wird. Neben den Genannten finden sich gelegentlich auch urogenitale Fehlbildungen.
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Zweier C et al. () Clinical and mutational spectrum of Mowat-Wilson syndrome. |
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Silengo M et al. (2004) Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. |
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Horn D et al. (2004) Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. |
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de Pontual L et al. (2006) Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. |
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Wakamatsu N et al. (2001) Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. |
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Cacheux V et al. (2001) Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. |
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Yamada K et al. (2001) Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features. |
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Amiel J et al. (2001) Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. |
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Yoneda M et al. (2002) Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B. |
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Zweier C et al. (2003) Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. |
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Ishihara N et al. (2004) Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. |
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McGaughran J et al. (2005) Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. |
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Zweier C et al. (2006) Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. |
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Heinritz W et al. (2006) A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. |
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Dastot-Le Moal F et al. (2007) ZFHX1B mutations in patients with Mowat-Wilson syndrome. |
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Ghoumid J et al. (2013) ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. |
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Tanaka H et al. () Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome. |
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Orphanet article Orphanet ID 2152 |
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OMIM.ORG article Omim 235730 |
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Wikipedia Artikel Wikipedia DE (Mowat-Wilson-Syndrom) |