×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.
8434615
1993
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
10712195
2000
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
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
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
7573032
1995
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
"Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."
11343323
2001
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.
10735635
2000
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.
25245177
2014
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Clinical variability in patients with Apert's syndrome.
10067911
1999
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
9585583
1998
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
26362256
2015
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
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
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
19610084
2009
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Beare-Stevenson cutis gyrata syndrome.
1519658
1992
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.
28901406
2017
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
The molecular and cellular basis of Apert syndrome.
25343114
2013
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
24127277
2013
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
7987400
1994
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Mutations in different components of FGF signaling in LADD syndrome.
16501574
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
10633130
2000
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Non surgical treatment of Crouzon syndrome.
25209230
2014
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Pfeiffer syndrome.
16740155
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.
18726952
2009
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
22387015
2012
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
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
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Phenotypic variation in LADD syndrome.
4078868
1985