×
Entrez Id:
4921
Gene Symbol:
DDR2
DDR2
0.730
GeneticVariation
disease
BEFREE
We report on a 5-year-old girl with the classic phenotype of SMED, SL-AC in whom a novel homozygous nonsense mutation in DDR2 was detected using exome sequencing.
29884795
2018
×
Entrez Id:
4921
Gene Symbol:
DDR2
DDR2
0.730
GeneticVariation
disease
BEFREE
We report here a novel DDR2 missense mutation, c.370C > T (p.Arg124Trp ) in a Moroccan girl with SMED, SL-AC , identified by whole exome sequencing.
26463668
2016
×
Entrez Id:
4921
Gene Symbol:
DDR2
DDR2
0.730
GeneticVariation
disease
UNIPROT
We report here a novel DDR2 missense mutation, c.370C > T (p.Arg124Trp) in a Moroccan girl with SMED, SL-AC , identified by whole exome sequencing.
26463668
2016
×
Entrez Id:
4921
Gene Symbol:
DDR2
DDR2
0.730
GeneticVariation
disease
UNIPROT
Another DDR2 missense mutation, c.2254C>T (p.R752C), matching one of the previously reported SMED-SL mutations, was found in a second affected family.
20223752
2010
×
Entrez Id:
4921
Gene Symbol:
DDR2
DDR2
0.730
GeneticVariation
disease
BEFREE
Another DDR2 missense mutation, c.2254C>T (p.R752C ), matching one of the previously reported SMED-SL mutations, was found in a second affected family.
20223752
2010
×
Entrez Id:
4921
Gene Symbol:
DDR2
DDR2
0.730
GermlineCausalMutation
disease
ORPHANET
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
19110212
2009
×
Entrez Id:
4921
Gene Symbol:
DDR2
DDR2
0.730
GeneticVariation
disease
UNIPROT
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
19110212
2009
×
Entrez Id:
4921
Gene Symbol:
DDR2
DDR2
0.730
Biomarker
disease
GENOMICS_ENGLAND
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.
8434618
1993
×
Entrez Id:
4921
Gene Symbol:
DDR2
DDR2
0.730
CausalMutation
disease
CLINVAR
×
Entrez Id:
4921
Gene Symbol:
DDR2
DDR2
0.730
Biomarker
disease
CTD_human