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Article

Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).

Journal of pediatric surgery - 1 Feb 2016

Moore Sam W, Fieggen Karen, Honey Engela, Zaahl Monique

Abstract excerpt

BACKGROUND: Mowat Wilson syndrome (MWS) is an uncommon association of Hirschsprung's disease (HSCR). Phenotypic features may develop with time, causing initial difficulties in diagnosis. MWS results from haploinsufficiency of the Zinc finger E-box-binding homeobox 2 (ZEB2) gene, and molecular diagnosis of ZEB2 mutation is required to confirm the diagnosis. We report the first confirmed cases of MWS in three...

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Source

Identifiers

PMID: 26852091
DOI: 10.1016/j.jpedsurg.2015.10.070

Genes

ZEB2

Variants

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).PMID 26852091Read ↗

[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].Semantic proximity Read ↗

[Analysis of a case with Mowat-Wilson syndrome caused by ZEB2 gene variant].Semantic proximity Read ↗

Mowat–Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular InteractionsSemantic proximity Read ↗

ZEB2 Gene Pathogenic Variants Across Protein-Coding Regions and Impact on Clinical Manifestations: A ReviewSemantic proximity Read ↗

Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.Semantic proximity Read ↗

Clinical characteristics and novel ZEB2 gene mutation analysis of three Chinese patients with Mowat-Wilson syndromeSemantic proximity Read ↗

Mowat–Wilson syndrome: an underdiagnosed syndrome?Semantic proximity Read ↗

A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene.Semantic proximity Read ↗

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.Semantic proximity Read ↗

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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.Semantic proximity Read ↗

Mowat-Wilson Syndrome: Distribution of Pathogenic Variants in ZEB2 Gene Domains and Regions Presents Challenges in Genetic CounselingSemantic proximity Read ↗

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