Associated Papers
Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients.
Abdelfattah AS et al.
Molecular Cytogenetics, 2025
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Basel-Vanagaite L et al.
American Journal of Human Genetics, 2012
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