ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.

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Hirschsprung's disease in children with Mowat-Wilson syndrome.Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.

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ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.

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http://www.wikidata.org/entity/Q41929813

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2014 nî lūn-bûn

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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2014年论文

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2014年论文

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name

ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.

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type

Item

label

ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.

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prefLabel

ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.

@en

P1476

ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.

@en

P2093

Ersida Buraniqi

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Manikum Moodley

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P2860

Mowat-Wilson syndrome

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome

Mowat-Wilson syndrome

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

ZEB2 mediates multiple pathways regulating cell proliferation, migration, invasion, and apoptosis in glioma.

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

P304

32-36

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scholarly article

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10.1177/0883073814535501

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P478

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2014-07-14T00:00:00Z

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P698

25028418

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ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.

about

P2860

P2860

ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698