Associated Papers
Mowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions.
St Peter C et al.
International Journal of Molecular Sciences, 2024
Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.
Fu Y et al.
Frontiers in Genetics, 2022
35646055 (PubMed )
Supplement: DataSheet1.xls › All_the_ZEB2_variants
Mutations in Smad-interacting protein 1 gene are responsible for absence of its expression in Hirschsprung's disease.
Zhao W et al.
Clinical and Experimental Medicine, 2018
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Yamada Y et al.
American Journal of Medical Genetics. Part A, 2014
ZFHX1B mutations in patients with Mowat-Wilson syndrome.
Dastot-Le Moal F et al.
Human Mutation, 2007
Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome.
Ishihara N et al.
Journal of Pediatric Surgery, 2005
Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.
Gregory-Evans CY et al.
American Journal of Medical Genetics. Part A, 2004
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.
Ishihara N et al.
Journal of Medical Genetics, 2004
Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.
Yamada K et al.
American Journal of Human Genetics, 2001
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.
Wakamatsu N et al.
Nature Genetics, 2001
Clinical and mutational spectrum of Mowat-Wilson syndrome.
Zweier C et al.
European Journal of Medical Genetics, 0
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