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Mowat-Wilson syndrome

Known as: MOWS, Hirschsprung disease mental retardation syndrome, Hirschsprung Disease-Mental Retardation Syndrome 
A rare autosomal dominant syndrome caused by mutations in the ZEB2 gene. It is characterized by mental retardation, and a distinctive facial… 
National Institutes of Health

Related topics

Related topics

30 relations
Accessory nippleAgenesis of corpus callosumAtrial Septal DefectsAutosomal dominant inheritance

Broader (4)

FaciesHirschsprung DiseaseIntellectual DisabilityMicrocephaly

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Mowat-Wilson syndrome
Children with Mowat-Wilson syndrome have a square-shaped face with deep-set, widely spaced eyes. They also have a broad nasal… 
2013
2013
Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype
Mowat–Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is… 
Highly Cited
2012
Highly Cited
2012
The behavioral phenotype of Mowat–Wilson syndrome
Mowat–Wilson syndrome (MWS) is caused by a heterozygous mutation or deletion of the ZEB2 gene. It is characterized by a… 
Highly Cited
2010
Highly Cited
2010
The mesenchymal stem cell antigen MSCA-1 is identical to tissue non-specific alkaline phosphatase.
We have recently identified 2 distinct CD271(bright)MSCA-1(dim)CD56(+) and CD271(bright)MSCA-1(bright)CD56(-) MSC subsets in… 
Review
2009
Review
2009
Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature
Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene… 
Highly Cited
2006
Highly Cited
2006
Clinical features and management issues in Mowat–Wilson syndrome
Mowat–Wilson syndrome (MWS) is a relatively newly described multiple congenital anomaly/mental retardation syndrome… 
2005
2005
Recurrence of Mowat–Wilson syndrome in siblings with the same proven mutation
Mowat–Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, microcephaly, epilepsy… 
Highly Cited
2004
Highly Cited
2004
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1
Hirschsprung disease (HSCR), a clinically complex syndrome often associated with a combination of mental retardation… 
Highly Cited
2002
Highly Cited
2002
"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…
Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with "syndromic Hirschsprung disease" with mental retardation… 
Highly Cited
1989
Highly Cited
1989
Familial Occurrence of Neuroblastoma, Von Recklinghausen's Neurofibromatosis, Hirschsprung's Agangliosis and Jaw‐winking Syndrome
ABSTRACT. A family is reported with ganglioneuromas in the mother and neuroblastomas in her two daughters co‐existing with cases… 
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