ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome (Q41929813)

14 October 2017

title

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

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14 October 2017

Ersida Buraniqi

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14 October 2017

Manikum Moodley

series ordinal

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14 October 2017

publication date

14 July 2014

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Journal of Child Neurology

14 October 2017

published in

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14 October 2017

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14 October 2017

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14 October 2017

page(s)

32-36

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

14 October 2017

cites work

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21 January 2018

Mowat-Wilson syndrome

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

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

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21 January 2018

Mowat-Wilson syndrome

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?Mowat-Wilson? syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

21 January 2018

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Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

21 January 2018

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Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

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Mowat-Wilson syndrome: an underdiagnosed syndrome?

21 January 2018

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Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.

21 January 2018

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Clinical and mutational spectrum of Mowat-Wilson syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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Clinical features and management issues in Mowat-Wilson syndrome

21 January 2018

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ZFHX1B mutations in patients with Mowat-Wilson syndrome

21 January 2018

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Mowat-Wilson syndrome associated with craniosynostosis

21 January 2018

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Mowat-Wilson syndrome: the first report of an association with central nervous system tumors.

21 January 2018

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

21 January 2018

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Dlx1&2-dependent expression of Zfhx1b (Sip1, Zeb2) regulates the fate switch between cortical and striatal interneurons

21 January 2018

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

21 January 2018

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Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report.

21 January 2018

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Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

21 January 2018

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21 January 2018

Identifiers

DOI

10.1177/0883073814535501

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14 October 2017

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