×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Muenke syndrome: An international multicenter natural history study.
26740388
2016
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.
25931420
2015
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Executive Function and Adaptive Behavior in Muenke Syndrome.
26028288
2015
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.
24864036
2014
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.
23378035
2013
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Growth and development in thanatophoric dysplasia - an update 25 years later.
25356217
2013
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.
23740942
2013
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
22604720
2012
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
23165795
2012
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.
22045636
2012
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Brain and bone abnormalities of thanatophoric dwarfism.
19098178
2009
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Significant phenotypic variability of Muenke syndrome in identical twins.
19449410
2009
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003.
18344207
2008
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Achondroplasia: from genotype to phenotype.
17950653
2008
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Achondroplasia.
18328977
2008
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Crouzon with acanthosis nigricans. Further delineation of the syndrome.
17935505
2007
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
18000976
2007
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
17033969
2006
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Mutations in different components of FGF signaling in LADD syndrome.
16501574
2006
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
15241680
2004
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
12707965
2003
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
10777366
2000
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Epidemiology and genetics of craniosynostosis.
10602123
2000
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
9950359
1999
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
Dysmorphic features
0.100
CausalMutation
CLINVAR
"Let's call it ""Crouzonodermoskeletal syndrome"" so we won't be prisoners of our own conventional terminology."
10213050
1999