Disease: Kaufman oculocerebrofacial syndrome
- A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature
- An oculocerebrofacial syndrome
- Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
- Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review
- Homozygous MED25 mutation implicated in eye-intellectual disability syndrome
- In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle
- Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails
- Kaufman Oculocerebrofacial Syndrome
- Kaufman oculocerebrofacial syndrome in a girl of 15 years
- Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
- Kaufman oculocerebrofacial syndrome: case report
- Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients
- Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation
- Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome
- Molecular Evolution, Neurodevelopmental Roles and Clinical Significance of HECT-Type UBE3 E3 Ubiquitin Ligases
- Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population
- Oculo-cerebro-facial syndrome, Kaufman type
- Split Chloramphenicol Acetyl-Transferase Assay Reveals Self-Ubiquitylation-Dependent Regulation of UBE3B
- The murine ortholog of Kaufman oculocerebrofacial syndrome gene Ube3b is crucial for the maintenance of the excitatory synapses in the young adult stage
- The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc
- The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK
- Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum
- UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase
- UBE3B promotes breast cancer progression by antagonizing HIF-2α degradation
- Whole Exome Sequencing Achieved a Definite Diagnosis of Kaufman Oculocerebrofacial Syndrome in a Bahraini Family: A Case Report