|
BRACHYDACTYLY, TYPE A2
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.
|
21976273 |
2012 |
|
BRACHYDACTYLY, TYPE A2
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-dominant brachydactyly type A2 (BDA2), a limb malformation characterized by hypoplastic middle phalanges of the second and fifth fingers, has been shown to be due to mutations in the Bone morphogenetic protein receptor 1B (BMPR1B) or in its ligand Growth and differentiation factor 5 (GDF5).
|
19327734 |
2009 |
|
BRACHYDACTYLY, TYPE A2
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals.
|
18203755 |
2008 |
|
BRACHYDACTYLY, TYPE A2
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals.
|
18203755 |
2008 |
|
BRACHYDACTYLY, TYPE A2
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous missense mutations in the serine-threonine kinase receptor BMPR1B result typically in brachydactyly type A2 (BDA2), whereas mutations in the corresponding ligand GDF5 cause brachydactyly type C (BDC).
|
16957682 |
2006 |
|
BRACHYDACTYLY, TYPE A2
|
0.950 |
GermlineCausalMutation
|
disease |
ORPHANET |
GDF5 is a novel BDA2 causing gene.It is suggested that impaired activity of BMPR1B is the molecular mechanism responsible for the BDA2 phenotype.
|
16014698 |
2006 |
|
BRACHYDACTYLY, TYPE A2
|
0.950 |
AlteredExpression
|
disease |
BEFREE |
GDF5 is a novel BDA2 causing gene.It is suggested that impaired activity of BMPR1B is the molecular mechanism responsible for the BDA2 phenotype.
|
16014698 |
2006 |
|
BRACHYDACTYLY, TYPE A2
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions previously associated with mutations in the GDF5 receptor bone morphogenetic protein receptor type 1b (BMPR1B) and the BMP antagonist NOGGIN, respectively.
|
16127465 |
2005 |
|
BRACHYDACTYLY, TYPE A2
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions previously associated with mutations in the GDF5 receptor bone morphogenetic protein receptor type 1b (BMPR1B) and the BMP antagonist NOGGIN, respectively.
|
16127465 |
2005 |
|
BRACHYDACTYLY, TYPE A2
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.
|
2703235 |
1989 |
|
BRACHYDACTYLY, TYPE A2
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
BRACHYDACTYLY, TYPE A2
|
0.950 |
Biomarker
|
disease |
MGD |
|
|
|
|
BRACHYDACTYLY, TYPE A2
|
0.950 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
BRACHYDACTYLY, TYPE A2
|
0.950 |
Biomarker
|
disease |
HPO |
|
|
|
|
BRACHYDACTYLY, TYPE A2
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
|
|
|