Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleKaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.AuthorsPedurupillay, Christeen Ramane J.; Barøy, Tuva; Holmgren, Asbjørn; Blomhoff, Anne; Vigeland, Magnus D.; Sheng, Ying; Frengen, Eirik; Strømme, Petter; Misceo, DorianaPublicationAmerican Journal of Medical Genetics. Part A, 2015, Vol 167A, Issue 3, p657ISSN1552-4825Publication typeArticleDOI10.1002/ajmg.a.36944