Publications

Mowat DR et al.Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.J Med Genet 1998; 35:617-23. doi: 10.1136/jmg.35.8.617. PMID: 9719364;

Wakamatsu N et al.Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nat Genet. 2001;27(4):369-70. doi: 10.1038/86860. PMID: 11279515.

Cacheux V et al. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. Hum Mol Genet. 2001;10(14):1503-10. doi: 10.1093/hmg/10.14.1503. PMID: 11448942.

Garavelli L et al.Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome. Am J Med Genet A. 2003; 116A(4):385-8. doi: 10.1002/ajmg.a.10855. PMID: 12522797.

Wilson M et al.Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. Am J Med Genet A. 2003;119A(3):257-65. doi: 10.1002/ajmg.a.20053. PMID: 12784289.

Zweier C et al.Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet. 2005; 48(2):97-111. doi: 10.1016/j.ejmg.2005.01.003. Epub 2005 Feb 25. PMID: 16053902.

Garavelli L & Mainardi PC. Mowat-Wilson syndrome. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891.

Adam MP et al. Mowat-Wilson Syndrome. 2007 Mar 28 [updated 2019 Jul 25]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301585.

Garavelli L et al.Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Am J Med Genet A. 2009;149A(3):417-26. doi: 10.1002/ajmg.a.32693. PMID: 19215041.

Zollino M et al.Clinical utility gene card for: Mowat-Wilson syndrome.Eur J Hum Genet. 2011;19(8). doi: 10.1038/ejhg.2011.12. Epub 2011 Feb 23. PMID: 21343952.

Evans E et al.The behavioral phenotype of Mowat-Wilson syndrome. Am J Med Genet A. 2012;158A(2):358-66. doi: 10.1002/ajmg.a.34405. Epub 2012 Jan 13. PMID: 22246645.

Cordelli DM et al.Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. Am J Med Genet A. 2013;161A(2):273-84. doi: 10.1002/ajmg.a.35717. Epub 2013 Jan 15. PMID: 23322667.

Ghoumid J et al.ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.Hum Mol Genet. 2013;22(13):2652-61. doi: 10.1093/hmg/ddt114. PMID: 23466526.

Garavelli L et al.Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genet Med. 2017;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10. PMID: 27831545.

Ivanovski I et al.Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.Genet Med. 2018;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4. PMID: 29300384.

Nardello R et al.Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants. Epileptic Disord. 2020;22(1):111-115. doi: 10.1684/epd.2020.1138. PMID: 32031527.

Ivanovski I et al.Mowat-Wilson syndrome: growth charts. Orphanet J Rare Dis. 2020;15(1):151. doi: 10.1186/s13023-020-01418-4. PMID: 32539836.

Cordelli DM et al.Neurological Phenotype of Mowat-Wilson Syndrome. Genes (Basel). 2021 Jun 27;12(7):982. doi: 10.3390/genes12070982. PMID: 34199024.

Ricci E et al.Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals. Epilepsy Behav. 2021 Oct 4;124:108315. doi: 10.1016/j.yebeh.2021.108315. Epub ahead of print. PMID: 34619538.