|
Mowat-Wilson syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
ZFHX1B mutations in patients with Mowat-Wilson syndrome.
|
17203459 |
2007 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.
|
19842203 |
2009 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.
|
16532472 |
2006 |
|
Mowat-Wilson syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
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 |
GENOMICS_ENGLAND |
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.
|
16688751 |
2006 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The involvement of SOX10 and ZFHX1B in Waardenburg-Hirschsprung disease (hypopigmentation, deafness, and absence of enteric ganglia) and Mowat-Wilson syndrome (mental retardation, facial dysmorphy and variable congenital malformations including Hirschsprung disease) respectively, highlighted the importance of both transcription factors during enteric nervous system (ENS) development.
|
20206619 |
2010 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is a complex genetic disorder associated with heterozygous variation in ZEB2.
|
31321886 |
2019 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.
|
12451214 |
2002 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson Syndrome (MWS) is caused by deletion/mutation of the ZEB2 gene on chromosome 2q22.
|
28094084 |
2017 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).
|
26852091 |
2016 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe intellectual disability, corpus callosum abnormalities and other congenital malformations.
|
23322667 |
2013 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.
|
22486326 |
2012 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Smad-interacting protein-1 (Sip1) [Zinc finger homeobox (Zfhx1b), Zeb2] is a transcription factor implicated in the genesis of Mowat-Wilson syndrome (MWS) in humans.
|
28455101 |
2017 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene rarely diagnosed prenatally and with little fetal description reported.
|
23523603 |
2013 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat--Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816).
|
18259761 |
2008 |
|
Mowat-Wilson syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
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 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome caused by a heterozygous mutation or deletion of the ZEB2 gene.
|
26686679 |
2016 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat-Wilson" syndrome.
|
15006694 |
2004 |
|
Mowat-Wilson syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat-Wilson" syndrome.
|
15006694 |
2004 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Notably, mice with a mesoderm-specific deletion of the Zeb2 gene (Zeb2-cKO) demonstrated redundant skin, dermal hypoplasia and miniaturized collagen fibrils similar to those of MOWS patients.
|
28422173 |
2017 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene.
|
27831545 |
2017 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.
|
16688751 |
2006 |
|
Mowat-Wilson syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.
|
9719364 |
1998 |
|
Mowat-Wilson syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Strongyloides stercoralis hyperinfection in an HIV positive patient.
|
2030158 |
1991 |
|
Mowat-Wilson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ZFHX1B cause Mowat-Wilson syndrome (MWS) but the precise mechanisms underlying the aberrant functions of mutant ZFHX1B proteins (also named Smad-interacting protein-1, SIP1) in patients are unknown.
|
18182442 |
2008 |