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Ophthalmological abnormalities, most notably anterior chamber defects may also be seen. We describe the clinical and molecular findings in 13 individuals with suspected 3MC syndrome from 12 previously unreported families. The exclusion of the <jats:italic>MASP1<\/jats:italic> and <jats:italic>COLEC11<\/jats:italic> Loci in two individuals from different consanguineous families and the absence of mutations in four further individuals sequenced for both genes raises the possibility that that there is further genetic heterogeneity of 3MC syndrome. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37564","type":"journal-article","created":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T23:18:45Z","timestamp":1453331925000},"page":"1216-1224","source":"Crossref","is-referenced-by-count":26,"title":["Exploring the genetic basis of 3MC syndrome: Findings in 12 further families"],"prefix":"10.1002","volume":"170","author":[{"given":"Jill","family":"Urquhart","sequence":"first","affiliation":[{"name":"Faculty of Medical and Human Sciences, Institute of Human Development, Manchester Centre for Genomic Medicine, University of Manchester Manchester Academic Health Science Centre 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