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Last Updated: 10/31/2025
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Found 22 publications
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.
Journal: Clinical dysmorphology
Published: February 27, 2024
UBE3B promotes breast cancer progression by antagonizing HIF-2α degradation.
Journal: Oncogene
Published: May 21, 2023
Whole Exome Sequencing Achieved a Definite Diagnosis of Kaufman Oculocerebrofacial Syndrome in a Bahraini Family: A Case Report.
Journal: Clinical medicine insights. Pediatrics
Published: April 11, 2023
The murine ortholog of Kaufman oculocerebrofacial syndrome gene Ube3b is crucial for the maintenance of the excitatory synapses in the young adult stage.
Journal: Neuroscience letters
Published: September 07, 2022
Split Chloramphenicol Acetyl-Transferase Assay Reveals Self-Ubiquitylation-Dependent Regulation of UBE3B.
Journal: Journal of molecular biology
Published: June 21, 2021
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.
Journal: Molecular syndromology
Published: April 02, 2020
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.
Journal: Clinical dysmorphology
Published: June 05, 2019
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.
Journal: Molecular psychiatry
Published: March 22, 2019
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 28, 2019
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
Journal: American journal of medical genetics. Part A
Published: December 09, 2016
Last Updated: 10/31/2025