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Two novel compound heterozygous mutations in <jats:italic>UBE3B<\/jats:italic> were identified in both the sisters by exome sequencing. These mutations include c.1A&gt;G, which predicts p.Met1?, and a c.1773delC variant, predicted to cause a frameshift at p.Phe591fs. <jats:italic>UBE3B<\/jats:italic> encodes a widely expressed protein ubiquitin ligase E3B, which, when mutated in both alleles, causes Kaufman oculocerebrofacial syndrome. We report on the thorough clinical examination of the patients and review the state of art knowledge of this disorder. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36944","type":"journal-article","created":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T06:39:36Z","timestamp":1424241576000},"page":"657-663","source":"Crossref","is-referenced-by-count":16,"title":["Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in <i>UBE3B<\/i>"],"prefix":"10.1002","volume":"167","author":[{"given":"Christeen Ramane J.","family":"Pedurupillay","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital and University of Oslo Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tuva","family":"Bar\u00f8y","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital and University of Oslo 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