Associated Papers
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.
Pedurupillay CR et al.
American Journal of Medical Genetics. Part A, 2015
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.
Flex E et al.
Journal of Medical Genetics, 2013
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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