Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "Research in developmental disabilities"
DOI: 10.1016/j.ridd.2017.01.006
Abstract: BACKGROUND Mowat-Wilson Syndrome (MWS) is caused by deletion/mutation of the ZEB2 gene on chromosome 2q22. MWS is characterized by a distinctive facial appearance, severe intellectual disability and other anomalies, e.g. seizures and/or Hirschsprung disease (HSCR).… read more here.
Keywords: psychological symptoms; incontinence psychological; incontinence; mowat wilson ... See more keywords
Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant.
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101518
Abstract: Mowat-Wilson syndrome (MWS) is a complex developmental syndrome caused by heterozygous mutations in the Zinc finger E-box-binding homeobox 2 gene (ZEB2). We generated the first human iPSC lines from primary fibroblasts of two siblings with… read more here.
Keywords: zeb2; cell; mowat wilson; ipsc lines ... See more keywords
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/srep46565
Abstract: Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly,… read more here.
Keywords: collagen; zeb2; mowat wilson; wilson syndrome ... See more keywords
Mowat-Wilson syndrome presenting with Shone’s complex cardiac anomaly
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-246913
Abstract: A female infant, who was diagnosed antenatally with complex heart disease, confirmed to be Shone’s complex postnatally, underwent bilateral pulmonary artery banding, patent ductus arteriosus stent insertion and balloon aortic valvuloplasty soon after birth. She… read more here.
Keywords: shone complex; mowat wilson; syndrome presenting; shone ... See more keywords
Mowat-Wilson syndrome: growth charts
Sign Up to like & getrecommendations! Published in 2020 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-020-01418-4
Abstract: Background Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of… read more here.
Keywords: growth charts; mws; mowat wilson; head circumference ... See more keywords
Mowat-Wilson Syndrome Presenting With Purpura Fulminans
Sign Up to like & getrecommendations! Published in 2018 at "Pediatrics"
DOI: 10.1542/peds.2018-0922
Abstract: We describe a case of purpura fulminans due to MWS with asplenia, and we propose screening and prophylaxis to prevent invasive pneumococcal infection. Purpura fulminans is a rapidly progressive syndrome of intravascular thrombosis and hemorrhagic… read more here.
Keywords: mowat wilson; syndrome presenting; purpura; wilson syndrome ... See more keywords
ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.988993
Abstract: Mowat-Wilson syndrome (MWS) is a severe neurodevelopmental disorder caused by heterozygous variants in the gene encoding transcription factor ZEB2. Affected individuals present with structural brain abnormalities, speech delay and epilepsy. In mice, conditional loss of… read more here.
Keywords: wilson syndrome; zeb2 haploinsufficient; stem cells; mowat wilson ... See more keywords