{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:50:15Z","timestamp":1764172215805},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,10,18]],"date-time":"2016-10-18T00:00:00Z","timestamp":1476748800000},"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":[[2017,1]]},"abstract":"<jats:sec><jats:label \/><jats:p>We report on a patient with a 6.5\u2009Mb interstitial de novo deletion in 3q24q25.2, characterized by array CGH. The patient is a 4\u2010year and 2\u2010month\u2010old girl, who presented to us with mild developmental delay, absence of language, facial dysmorphism, hirsutism, strabismus, and Dandy\u2013Walker Malformation. The main clinical signs typical of WS (Wisconsin syndrome) are evident in the patient. The molecular mapping of WS in 3q23q25 allowed geneticists to define the syndrome more accurately. Comparing the present patient's phenotype with that of cases with a molecular characterization so far reported, it was possible to narrow the critical region for WS to an interval of 750\u2009Kb, where two genes (<jats:italic>MBNL1<\/jats:italic> and <jats:italic>TMEM14E<\/jats:italic>) are harbored. The potential role of <jats:italic>MBNL1<\/jats:italic> in causing the WS phenotype is discussed. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38002","type":"journal-article","created":{"date-parts":[[2016,10,18]],"date-time":"2016-10-18T06:08:32Z","timestamp":1476770912000},"page":"280-284","source":"Crossref","is-referenced-by-count":3,"title":["A 6.5\u2009mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750\u2009kb interval: A potential role for <i>MBNLI<\/i>"],"prefix":"10.1002","volume":"173","author":[{"given":"Veronica","family":"Bertini","sequence":"first","affiliation":[{"name":"Unita\u2019 di Genetica Medica A.O.U. Pisana, Ospedale S.Chiara Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Orsini","sequence":"additional","affiliation":[{"name":"Sezione di Neurologia Pediatrica A.O.U. 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