Chondrodysplasia, Grebe type
|
0.970 |
Biomarker
|
disease |
MGD |
|
|
|
Chondrodysplasia, Grebe type
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Chondrodysplasia, Grebe type
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Chondrodysplasia, Grebe type
|
0.970 |
Biomarker
|
disease |
CTD_human |
|
|
|
Chondrodysplasia, Grebe type
|
0.970 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Chondrodysplasia, Grebe type
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.
|
2703235 |
1989 |
Chondrodysplasia, Grebe type
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.
|
9288098 |
1997 |
Chondrodysplasia, Grebe type
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.
|
12124730 |
2002 |
Chondrodysplasia, Grebe type
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family.
|
12900894 |
2003 |
Chondrodysplasia, Grebe type
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
We describe a 4 bp novel insertion mutation in CDMP1 gene in a Pakistani family with Grebe-type chondrodysplasia.
|
19038017 |
2008 |
Chondrodysplasia, Grebe type
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Therefore, it is possible that the p.Cys429Arg change in the GDF5 has produced an inactive protein, resulting in a Grebe-type chondrodysplasia phenotype in the affected children.
|
18979166 |
2008 |
Chondrodysplasia, Grebe type
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.
|
23812741 |
2013 |
Chondrodysplasia, Grebe type
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
In single instances, Grebe dysplasia and a Grebe dysplasia-like phenotype with genital anomalies have been shown to be caused by mutations in BMPR1B, encoding a GDF5 receptor.
|
26105076 |
2015 |
Chondrodysplasia, Grebe type
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Of the 34 mutations described in the CDMP1 gene, four different missense mutations have been associated with Grebe syndrome.
|
26275437 |
2016 |
Chondrodysplasia, Grebe type
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Disease causing sequence variants in the GDF5 (Growth Differentiation Factor 5) gene located on chromosome 20q11.22 are responsible for causing AMDG.
|
27577507 |
2017 |