rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
CRANIOSYNOSTOSIS, TYPE 2
0.840
GeneticVariation
UNIPROT
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.
23918290
2013
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
CRANIOSYNOSTOSIS, TYPE 2
0.840
GeneticVariation
UNIPROT
Boston type craniosynostosis: report of a second mutation in MSX2.
23949913
2013
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
CRANIOSYNOSTOSIS, TYPE 2
0.840
GeneticVariation
BEFREE
The Boston-type craniosynostosis mutation MSX2 (P148H ) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation.
18786927
2008
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
CRANIOSYNOSTOSIS, TYPE 2
0.840
GeneticVariation
BEFREE
It has previously been shown that a missense mutation of Msx2 (P148H ) causes Boston-type craniosynostosis in humans.
11683913
2001
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
CRANIOSYNOSTOSIS, TYPE 2
0.840
GeneticVariation
BEFREE
MSX2 is a homeodomain transcription factor that has been implicated in craniofacial morphogenesis on the basis of its expression pattern during mouse development and the finding of a missense mutation (P148H ) in humans affected with Boston-type craniosynostosis .
9147639
1997
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
CRANIOSYNOSTOSIS, TYPE 2
0.840
GeneticVariation
BEFREE
The molecular basis of Boston-type craniosynostosis : the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences.
8968743
1996
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
CRANIOSYNOSTOSIS, TYPE 2
0.840
GeneticVariation
UNIPROT
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.
8106171
1993
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
CRANIOSYNOSTOSIS, TYPE 2
A
0.840
CausalMutation
CLINVAR
rs104893895
×
Entrez Id:
4488
Gene Symbol:
MSX2
MSX2
CRANIOSYNOSTOSIS, TYPE 2
T
0.840
CausalMutation
CLINVAR