PMID 17236139 2007 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.
PMID 25385192 2015 Variants in CUL4B are associated with cerebral malformations.
PMID 19818632 2009 CRL4s: the CUL4-RING E3 ubiquitin ligases.
PMID 20002452 2010 A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
PMID 17273978 2007 Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.
PMID 24898194 2014 Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
PMID 28817236 2017 A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.
PMID 21816345 2011 X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.
PMID 10978355 2000 A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.
rs1556200443 in
CUL4B gene and
Muscle hypotonia
PMID 17236139 2007 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.
PMID 17273978 2007 Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.
PMID 24898194 2014 Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
PMID 20002452 2010 A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
PMID 10978355 2000 A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.
PMID 28817236 2017 A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.
PMID 21816345 2011 X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.
PMID 25385192 2015 Variants in CUL4B are associated with cerebral malformations.
PMID 19818632 2009 CRL4s: the CUL4-RING E3 ubiquitin ligases.
PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.