1. ↑ Jump up to:1.0 1.1 1.2 1.3 Adam MP, Conta J, Bean LJH. Mowat-Wilson Syndrome. 2007 Mar 28 [Updated 2019 Jul 25]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from:
  2. ↑ Jump up to:2.0 2.1 Ayyildiz Emecen D, Isik E, Utine GE, Simsek-Kiper PO, Atik T, Ozkinay F. Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome. Mol Syndromol. 2020 Dec;11(5-6):296-301. doi: 10.1159/000511609.
  3.  Mowat, DR; Croaker, GD; Cass, DT; Kerr, BA; Chaitow, J; Adès, LC; Chia, NL; Wilson, MJ. “Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23”. Journal of Medical Genetics. 1998, 35 (8): 617–23. doi:10.1136/jmg.35.8.617
  4. ↑ Jump up to:4.0 4.1 4.2 “ZEB2 – zinc finger E-box binding homeobox 2”. HUGO Gene Nomenclature Committee. 29 August 2019. Retrieved 30 August 2019.
  5. ↑ Jump up to:5.0 5.1 5.2 5.3 Saunders CJ, Zhao W, Ardinger HH. Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics. Am J Med Genet A 2009; 149A: 2527-2531.
  6.  Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, et al. The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations. Am J Med Genet A. 2014 Aug;164A(8):1899-908. doi: 10.1002/ajmg.a.36551. Epub 2014 Apr 8. Erratum in: Am J Med Genet A. 2015 Jun;167(6):1428. PMID: 24715670.
  7.  Ivanovski I, Kjuric O, Broccoli S, et al. Mowat-Wilson syndrome: growth charts. Orphanet J Rare Dis. 2020; 15:151. PMID 32539836.
  8.  Valera ET, Ferraz ST, Brassesco MS, Zhen X, Shen Y, dos Santos AC et al. Mowat-Wilson syndrome: the first report of an association with central nervous system tumors. Childs Nerv Syst 2013; 29: 2151-2155. doi: 10.1007/s00381-013-2283-5.
  9.  Garavelli, L., Mainardi, P.C. Mowat-Wilson syndrome. Orphanet J Rare Dis 2, 42 (2007).