Associated Papers
Variants in CUL4B are associated with cerebral malformations.
Vulto-van Silfhout AT et al.
Human Mutation, 2015
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
Londin ER et al.
American Journal of Medical Genetics. Part A, 2014
Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair.
Ravn K et al.
Clinical Genetics, 2012
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
Tarpey PS et al.
American Journal of Human Genetics, 2007
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