{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:22:03Z","timestamp":1790976123301,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,2,12]],"date-time":"2009-02-12T00:00:00Z","timestamp":1234396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mowat\u2013Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the <jats:italic>ZEB2<\/jats:italic> gene, and characterized by typical face, moderate\u2010to\u2010severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects. Since the first delineation by Mowat et al. [Mowat et al. (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib22\">1998<\/jats:ext-link>); J Med Genet 35:617\u2013623], \u223c179 patients with <jats:italic>ZEB2<\/jats:italic> mutations, deletions or cytogenetic abnormalities have been reported primarily from Europe, Australia and the United States. Genetic defects include chromosome 2q21\u2013q23 microdeletions (or different chromosome rearrangements) in few patients, and <jats:italic>ZEB2<\/jats:italic> mutations in most. We report on clinical and genetic data from 19 Italian patients, diagnosed within the last 5 years, including six previously published, and compare them with patients already reported. The main purpose of this review is to underline a highly consistent phenotype and to highlight the phenotypic evolution occurring with age, particularly of the facial characteristics. The prevalence of MWS is likely to be underestimated. Knowledge of the phenotypic spectrum of MWS and of its changing phenotype with age can improve the detection rate of this condition. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32693","type":"journal-article","created":{"date-parts":[[2009,2,12]],"date-time":"2009-02-12T23:58:19Z","timestamp":1234483099000},"page":"417-426","source":"Crossref","is-referenced-by-count":94,"title":["Mowat\u2013Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature"],"prefix":"10.1002","volume":"149A","author":[{"given":"L.","family":"Garavelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Zollino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. 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