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Year Number of Results
1952 1
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2005 4
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2007 10
2008 9
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2013 15
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201 results

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Page 1
Mowat-Wilson Syndrome.
Adam MP, Conta J, Bean LJH. Adam MP, et al. 2007 Mar 28 [updated 2019 Jul 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 Mar 28 [updated 2019 Jul 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301585 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with …
CLINICAL CHARACTERISTICS: Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced ey …
Mowat-Wilson syndrome.
Steiner CE. Steiner CE. Arq Neuropsiquiatr. 2015 Jan;73(1):1-2. doi: 10.1590/0004-282X20140224. Epub 2015 Jan 1. Arq Neuropsiquiatr. 2015. PMID: 25608118 Free article. No abstract available.
Mowat-Wilson syndrome.
Mowat DR, Wilson MJ, Goossens M. Mowat DR, et al. J Med Genet. 2003 May;40(5):305-10. doi: 10.1136/jmg.40.5.305. J Med Genet. 2003. PMID: 12746390 Free PMC article. Review.
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC. Garavelli L, et al. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. Orphanet J Rare Dis. 2007. PMID: 17958891 Free PMC article. Review.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large a …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (hig …
Neurological Phenotype of Mowat-Wilson Syndrome.
Cordelli DM, Di Pisa V, Fetta A, Garavelli L, Maltoni L, Soliani L, Ricci E. Cordelli DM, et al. Genes (Basel). 2021 Jun 27;12(7):982. doi: 10.3390/genes12070982. Genes (Basel). 2021. PMID: 34199024 Free PMC article. Review.
Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). ...
Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or delet …
Mowat-Wilson syndrome: growth charts.
Ivanovski I, Djuric O, Broccoli S, Caraffi SG, Accorsi P, Adam MP, Avela K, Badura-Stronka M, Bayat A, Clayton-Smith J, Cocco I, Cordelli DM, Cuturilo G, Di Pisa V, Dupont Garcia J, Gastaldi R, Giordano L, Guala A, Hoei-Hansen C, Inaba M, Iodice A, Nielsen JEK, Kuburovic V, Lazalde-Medina B, Malbora B, Mizuno S, Moldovan O, Møller RS, Muschke P, Otelli V, Pantaleoni C, Piscopo C, Poch-Olive ML, Prpic I, Marín Reina P, Raviglione F, Ricci E, Scarano E, Simonte G, Smigiel R, Tanteles G, Tarani L, Trimouille A, Valera ET, Schrier Vergano S, Writzl K, Callewaert B, Savasta S, Street ME, Iughetti L, Bernasconi S, Giorgi Rossi P, Garavelli L. Ivanovski I, et al. Orphanet J Rare Dis. 2020 Jun 15;15(1):151. doi: 10.1186/s13023-020-01418-4. Orphanet J Rare Dis. 2020. PMID: 32539836 Free PMC article.
BACKGROUND: Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. ...
BACKGROUND: Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deleti …
ZEB2, the Mowat-Wilson Syndrome Transcription Factor: Confirmations, Novel Functions, and Continuing Surprises.
Birkhoff JC, Huylebroeck D, Conidi A. Birkhoff JC, et al. Genes (Basel). 2021 Jul 3;12(7):1037. doi: 10.3390/genes12071037. Genes (Basel). 2021. PMID: 34356053 Free PMC article. Review.
In between, it was further identified as causal gene causing Mowat-Wilson Syndrome (MOWS) and novel regulator of epithelial-mesenchymal transition (EMT). ...
In between, it was further identified as causal gene causing Mowat-Wilson Syndrome (MOWS) and novel regulator of epithe …
Neuropathology of Mowat-Wilson Syndrome.
Conces MR, Hughes A, Pierson CR. Conces MR, et al. Pediatr Dev Pathol. 2020 Aug;23(4):322-325. doi: 10.1177/1093526620903956. Epub 2020 Apr 6. Pediatr Dev Pathol. 2020. PMID: 32252596
Mowat-Wilson syndrome (MWS) is a syndromic form of Hirschsprung disease that is characterized by variable degrees of intellectual disability, characteristic facial dysmorphism, and a diverse set of other congenital malformations due to haploinsufficiency of Z …
Mowat-Wilson syndrome (MWS) is a syndromic form of Hirschsprung disease that is characterized by variable degrees of in …
Mowat-Wilson syndrome in a Chinese population: A case series.
Ho S, Luk HM, Chung BH, Fung JL, Mak HH, Lo IFM. Ho S, et al. Am J Med Genet A. 2020 Jun;182(6):1336-1341. doi: 10.1002/ajmg.a.61557. Epub 2020 Mar 20. Am J Med Genet A. 2020. PMID: 32196960
Mowat-Wilson syndrome (MWS) is characterized clinically by a distinctive facial gestalt, intellectual disability, microcephaly, epilepsy, and nonobligatory congenital malformations such as Hirschsprung disease, urogenital anomalies, congenital heart disease, …
Mowat-Wilson syndrome (MWS) is characterized clinically by a distinctive facial gestalt, intellectual disability, micro …
Hirschsprung disease.
Montalva L, Cheng LS, Kapur R, Langer JC, Berrebi D, Kyrklund K, Pakarinen M, de Blaauw I, Bonnard A, Gosain A. Montalva L, et al. Nat Rev Dis Primers. 2023 Oct 12;9(1):54. doi: 10.1038/s41572-023-00465-y. Nat Rev Dis Primers. 2023. PMID: 37828049 Review.
Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and vomiting. Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Sha …
Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and vomiting. Syn …
201 results