MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CUL4B result in Cabezas syndrome (CS).
|
31729179 |
2020 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Variants in CUL4B are associated with cerebral malformations.
|
25385192 |
2015 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
|
24898194 |
2014 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
Biomarker
|
disease |
CLINGEN |
Rescue of the genetically engineered Cul4b mutant mouse as a potential model for human X-linked mental retardation.
|
22763239 |
2012 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair.
|
22182342 |
2012 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Cabezas syndrome (MIM 300354) is a recently identified syndromic form of X-linked mental retardation (XLMR) caused by mutations in the CUL4B gene.
|
20002452 |
2010 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene.
|
20002452 |
2010 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
|
19377476 |
2009 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
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.
|
17236139 |
2007 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
Biomarker
|
disease |
CLINGEN |
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.
|
17236139 |
2007 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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.
|
17236139 |
2007 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
Biomarker
|
disease |
CLINGEN |
Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.
|
17273978 |
2007 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
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.
|
17236139 |
2007 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.
|
17273978 |
2007 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Pediatric management problems: Henoch-Schönlein purpura.
|
2000245 |
1991 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|