rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic variation in LADD syndrome.
|
4078868 |
1985 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Beare-Stevenson cutis gyrata syndrome.
|
1519658 |
1992 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.
|
8434615 |
1993 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
|
7987400 |
1994 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
|
7573032 |
1995 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
|
9585583 |
1998 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Clinical variability in patients with Apert's syndrome.
|
10067911 |
1999 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
|
10633130 |
2000 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.
|
10735635 |
2000 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
|
10712195 |
2000 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
"Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."
|
11343323 |
2001 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Limbal stem cell deficiency associated with LADD syndrome.
|
15883293 |
2005 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
|
15793702 |
2005 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
|
16061565 |
2005 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Pfeiffer syndrome.
|
16740155 |
2006 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in different components of FGF signaling in LADD syndrome.
|
16501574 |
2006 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
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 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
|
19610084 |
2009 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
|
22387015 |
2012 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
The molecular and cellular basis of Apert syndrome.
|
25343114 |
2013 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.
|
25245177 |
2014 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Non surgical treatment of Crouzon syndrome.
|
25209230 |
2014 |
rs121918490
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
|
26362256 |
2015 |