Skip to Main Content

Paper Details

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.
Am J Hum Genet
176
2007
CUL4B, CUL4B gene, CUL4B missense variant, E3 ligase, E3 ubiquitin ligase, X-linked mental retardation, X-linked mental retardation syndrome, XLMR, XLMR gene, Xq24, abnormalities of the toes, amino acids, central obesity, delayed puberty, hypogonadism, intention tremor, macrocephaly, obesity, pes cavus, seizures, short stature, tremor, ubiquitin, ubiquitin E3 ligase
Author NameAffiliation
Patrick S TarpeyWellcome Trust Sanger Institute
  • 1 - 1

Datasets

Release 1.2