Associated Papers
Case Report: Cabezas syndrome caused by CUL4B gene mutations in two unrelated Chinese boys.
Lin L et al.
Frontiers in Neuroscience, 2025
Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene.
Guan J et al.
Stem Cell Research, 2019
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
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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