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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 …
Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and vomiting. Syn …
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.
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, …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenoty …
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 …
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.
MWS is a multiple congenital anomaly syndrome, first clinically delineated by Mowat et al in 1998. Over 45 cases have now been reported. ...Congenital anomalies, including Hirschsprung disease (HSCR), congenital heart disease, hypospadias, genitourinary anomalies, a …
MWS is a multiple congenital anomaly syndrome, first clinically delineated by Mowat et al in 1998. Over 45 cases have now been …
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.
Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G. Garavelli L, et al. Am J Med Genet A. 2009 Mar;149A(3):417-26. doi: 10.1002/ajmg.a.32693. Am J Med Genet A. 2009. PMID: 19215041 Review.
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 …
Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the Z …
Role of Zeb2/Sip1 in neuronal development.
Epifanova E, Babaev A, Newman AG, Tarabykin V. Epifanova E, et al. Brain Res. 2019 Feb 15;1705:24-31. doi: 10.1016/j.brainres.2018.09.034. Epub 2018 Sep 25. Brain Res. 2019. PMID: 30266271 Free article. Review.
Zeb2 (Sip1, Zfhx1b) is a transcription factor that plays essential role in neuronal development. Sip1 mutation in humans was shown to cause Mowat-Wilson syndrome, a syndromic form of Hirschprung's disease. ...
Zeb2 (Sip1, Zfhx1b) is a transcription factor that plays essential role in neuronal development. Sip1 mutation in humans was shown to cause …
Hirschsprung's disease in children with Mowat-Wilson syndrome.
Coyle D, Puri P. Coyle D, et al. Pediatr Surg Int. 2015 Aug;31(8):711-7. doi: 10.1007/s00383-015-3732-x. Epub 2015 Jul 9. Pediatr Surg Int. 2015. PMID: 26156877 Review.
BACKGROUND: Hirschsprung's disease (HSCR) is cited as a classical component in the constellation of features found in children with Mowat-Wilson syndrome (MWS), which is caused by a mutation of the ZEB2 gene. ...METHODS: A systematic review of the literature …
BACKGROUND: Hirschsprung's disease (HSCR) is cited as a classical component in the constellation of features found in children with Mowat …
If not Angelman, what is it? A review of Angelman-like syndromes.
Tan WH, Bird LM, Thibert RL, Williams CA. Tan WH, et al. Am J Med Genet A. 2014 Apr;164A(4):975-92. doi: 10.1002/ajmg.a.36416. Am J Med Genet A. 2014. PMID: 24779060 Review.
The microdeletion/microduplication syndromes are now easily identified by chromosomal microarray analysis and include Phelan-McDermid syndrome (chromosome 22q13.3 deletion), MBD5 haploinsufficiency syndrome (chromosome 2q23.1 deletion), and KANSL1 haploinsufficiency …
The microdeletion/microduplication syndromes are now easily identified by chromosomal microarray analysis and include Phelan-McDermid syn …
Zeb2: A multifunctional regulator of nervous system development.
Hegarty SV, Sullivan AM, O'Keeffe GW. Hegarty SV, et al. Prog Neurobiol. 2015 Sep;132:81-95. doi: 10.1016/j.pneurobio.2015.07.001. Epub 2015 Jul 18. Prog Neurobiol. 2015. PMID: 26193487 Review.
Indeed, mutation of Zeb2 has dramatic neurological consequences both in animal models, and in humans with Mowat-Wilson syndrome, which results from heterozygous ZEB2 mutations. ...Finally, this review discusses how the neurodevelopmental defects of Zeb2 mutan …
Indeed, mutation of Zeb2 has dramatic neurological consequences both in animal models, and in humans with Mowat-Wilson synd …
12 results