|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is caused by a heterozygous mutation or deletion of the ZEB2 gene.
|
22246645 |
2012 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant.
|
31376723 |
2019 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
These findings may help to clarify the unknown roles of SIP1 in these cells and the pathoetiology of Mowat-Wilson syndrome.
|
24243579 |
2014 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.
|
19215041 |
2009 |
|
Mowat-Wilson syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.
|
11592033 |
2001 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome.
|
17478475 |
2007 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mowat-Wilson Syndrome is a recently delineated mental retardation syndrome usually associated with multiple malformations and a recognizable facial phenotype caused by defects of the transcriptional repressor ZFHX1B.
|
16053902 |
2005 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome.
|
12522767 |
2003 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.
|
11448942 |
2001 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Further analysis by array comparative genomic hybridization revealed a single-copy ZEB2 gene deletion at 2q22.3 consistent with Mowat-Wilson syndrome.
|
20093881 |
2010 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.
|
25028418 |
2015 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.
|
15384097 |
2004 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ZFHX1B mutations in patients with Mowat-Wilson syndrome.
|
17203459 |
2007 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results demonstrate the advantages of using de novo Zeb2 Δex7/+ mice with the C57BL/6 background as the MOWS model.
|
26319231 |
2015 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Sip1 mutation plays the main role in pathogenesis of the Mowat-Wilson syndrome, which is characterized by the pronounced epileptic symptoms.
|
30056076 |
2018 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22.
|
18445050 |
2008 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is a disorder caused by mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene.
|
29258970 |
2017 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene.
|
29300384 |
2018 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous truncating mutations or deletions in ZEB2 are known to cause Mowat-Wilson syndrome (MWS), which is characterized by seizures with onset in the second year of life, distinctive dysmorphic facial features and malformations that were absent in this patient.
|
26721324 |
2016 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease.
|
21712996 |
2011 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Clinical features and management issues in Mowat-Wilson syndrome.
|
17103451 |
2006 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Although the patient had no typical clinical features of Hirschsprung disease-mental retardation syndrome, a new 3-base pair deletion, eliminating an Asn, was identified in the responsible gene ZFHX1B.
|
12451214 |
2002 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Intrahepatic biliary anomalies in a patient with Mowat-Wilson syndrome uncover a role for the zinc finger homeobox gene zfhx1b in vertebrate biliary development.
|
21336163 |
2011 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
These results demonstrate the advantages of using de novo Zeb2 Δex7/+ mice with the C57BL/6 background as the MOWS model.
|
26319231 |
2015 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
FISH analysis showed that the deletion interval found in band 2q22 mapped at the translocation breakpoint, and that the ZFHX1B gene, which is known to be involved in the Mowat-Wilson syndrome, is located within the deletion interval.
|
17223398 |
2007 |