Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
The molecular and cellular basis of Apert syndrome.
|
25343114 |
2013 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
Clinical variability in patients with Apert's syndrome.
|
10067911 |
1999 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
|
26362256 |
2015 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
Non surgical treatment of Crouzon syndrome.
|
25209230 |
2014 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Beare-Stevenson cutis gyrata syndrome.
|
1519658 |
1992 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
|
9585583 |
1998 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
The molecular and cellular basis of Apert syndrome.
|
25343114 |
2013 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
Phenotypic variation in LADD syndrome.
|
4078868 |
1985 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
Limbal stem cell deficiency associated with LADD syndrome.
|
15883293 |
2005 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Non surgical treatment of Crouzon syndrome.
|
25209230 |
2014 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
Pfeiffer syndrome.
|
16740155 |
2006 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Limbal stem cell deficiency associated with LADD syndrome.
|
15883293 |
2005 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
|
9585583 |
1998 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
|
10633130 |
2000 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
|
16061565 |
2005 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
Mutations in different components of FGF signaling in LADD syndrome.
|
16501574 |
2006 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
|
7573032 |
1995 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Phenotypic variation in LADD syndrome.
|
4078868 |
1985 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
|
26362256 |
2015 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
|
15793702 |
2005 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.
|
8434615 |
1993 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
|
7987400 |
1994 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Clinical variability in patients with Apert's syndrome.
|
10067911 |
1999 |
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
|
10712195 |
2000 |