Kaufman Oculocerebrofacial Syndrome Latest Advances

Find the Latest Research About Kaufman Oculocerebrofacial Syndrome

Last Updated: 06/30/2026

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Found 24 publications

Lipemia retinalis in a neonate with Kaufman oculocerebrofacial syndrome: a case of co-occurrence.

Lipemia retinalis in a neonate with Kaufman oculocerebrofacial syndrome: a case of co-occurrence.

Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: October 18, 2025

Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients.

Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients.

Journal: Molecular cytogenetics
Published: August 01, 2025

Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.

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.

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.

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

A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.

A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.

Journal: Clinical genetics
Published: October 10, 2022

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 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.

Split Chloramphenicol Acetyl-Transferase Assay Reveals Self-Ubiquitylation-Dependent Regulation of UBE3B.

Journal: Journal of molecular biology
Published: June 21, 2021

Molecular Evolution, Neurodevelopmental Roles and Clinical Significance of HECT-Type UBE3 E3 Ubiquitin Ligases.

Molecular Evolution, Neurodevelopmental Roles and Clinical Significance of HECT-Type UBE3 E3 Ubiquitin Ligases.

Journal: Cells
Published: October 14, 2020

Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.

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.

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.

The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.

Journal: Molecular psychiatry
Published: March 22, 2019
Showing 1-12 of 24

Last Updated: 06/30/2026