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Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B |
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| Authors: | Christeen Ramane J. Pedurupillay Tuva Barøy Asbjørn Holmgren Anne Blomhoff Magnus D. Vigeland Ying Sheng Eirik Frengen Petter Strømme Doriana Misceo |
| Affiliation: | 1. Department of Medical Genetics, Oslo University Hospital and University of Oslo, Norway;2. Women and Children's Division, Department of Clinical Neurosciences for Children, Oslo University Hospital, Norway;3. Faculty of Medicine, University of Oslo, Norway |
| Abstract: | |
| Keywords: | congenital defects craniofacial dysmorphisms developmental delay Kaufman oculocerebrofacial syndrome whole exome sequencing ubiquitination UBE3B |