{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T10:11:57Z","timestamp":1788343917655,"version":"build-2803163510"},"reference-count":19,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,7,29]],"date-time":"2014-07-29T00:00:00Z","timestamp":1406592000000},"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":[[2014,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Marshall syndrome and type II Stickler syndrome are caused by mutations in COL11A1, which codes for the pro\u03b11chain of collagen XI. Collagen XI is a minor fibrillar collagen co\u2010expressed with collagen II in cartilage and the vitreous of the eye. Characteristic features of Marshall syndrome include midfacial hypoplasia, high myopia, and sensorineural\u2010hearing deficit. Deletions, insertions, splice site, and missense mutations in COL11A1 have been identified in Stickler syndrome and Marshall syndrome patients. In this study, we describe the clinical presentations of seven patients with Marshall syndrome from three unrelated Saudi families, inherited as autosomal dominant (two families) and autosomal recessive (one family). Cardinal clinical features of Marshall syndrome are manifested in all patients. One patient had ectodermal abnormalities. Mutations (c.2702G\u2009&gt;\u2009A in exon 34,IVS50\u2009+\u20091G\u2009&gt;\u2009A, and IVS50\u2009+\u2009lG\u2009&gt;\u2009C) were identified in COL11A1 in affected members. Interestingly, the first report of autosomal recessive Marshall syndrome was from Saudi Arabia caused by the same mutation (c.2702G\u2009&gt;\u2009A, p.Gly901Glu) as in one of our families. This study depicts detailed phenotypic and genetic description of dominant and recessive forms of Marshall syndrome due to COL11A1 mutations. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36681","type":"journal-article","created":{"date-parts":[[2014,7,29]],"date-time":"2014-07-29T18:50:52Z","timestamp":1406659852000},"page":"2601-2606","source":"Crossref","is-referenced-by-count":15,"title":["Marshall syndrome: Further evidence of a distinct phenotypic entity and report of new findings"],"prefix":"10.1002","volume":"164","author":[{"given":"O.","family":"Khalifa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"},{"name":"Department of Pediatrics Faculty of Medicine Ain Shams University Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Imtiaz","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Ramzan","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Allam","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Al\u2010","family":"Hemidan","sequence":"additional","affiliation":[{"name":"Section of Ophthalmology King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Faqeih","sequence":"additional","affiliation":[{"name":"Department of Pediatrics King Fahad Medical City Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Abuharb","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\/Head and Neck Surgery and Communication Sciences King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Balobaid","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Sakati","sequence":"additional","affiliation":[{"name":"Department of Pediatrics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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