Multiple congenital anomalies
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.
|
28901406 |
2017 |
Multiple congenital anomalies
|
0.400 |
CausalMutation
|
group |
CLINVAR |
FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.
|
28901406 |
2017 |
Multiple congenital anomalies
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
|
26362256 |
2015 |
Multiple congenital anomalies
|
0.400 |
CausalMutation
|
group |
CLINVAR |
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
|
26362256 |
2015 |
Multiple congenital anomalies
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.
|
25245177 |
2014 |
Multiple congenital anomalies
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.
|
25245177 |
2014 |
Multiple congenital anomalies
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
Non surgical treatment of Crouzon syndrome.
|
25209230 |
2014 |
Multiple congenital anomalies
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Non surgical treatment of Crouzon syndrome.
|
25209230 |
2014 |
Multiple congenital anomalies
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
Multiple congenital anomalies
|
0.400 |
CausalMutation
|
group |
CLINVAR |
The molecular and cellular basis of Apert syndrome.
|
25343114 |
2013 |
Multiple congenital anomalies
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
The molecular and cellular basis of Apert syndrome.
|
25343114 |
2013 |
Multiple congenital anomalies
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
Multiple congenital anomalies
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
|
22387015 |
2012 |
Multiple congenital anomalies
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
|
22387015 |
2012 |
Multiple congenital anomalies
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
|
19610084 |
2009 |
Multiple congenital anomalies
|
0.400 |
CausalMutation
|
group |
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 |
Multiple congenital anomalies
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
|
19610084 |
2009 |
Multiple congenital anomalies
|
0.400 |
GeneticVariation
|
group |
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 |
Multiple congenital anomalies
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
Mutations in different components of FGF signaling in LADD syndrome.
|
16501574 |
2006 |
Multiple congenital anomalies
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Mutations in different components of FGF signaling in LADD syndrome.
|
16501574 |
2006 |
Multiple congenital anomalies
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
Pfeiffer syndrome.
|
16740155 |
2006 |
Multiple congenital anomalies
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Pfeiffer syndrome.
|
16740155 |
2006 |
Multiple congenital anomalies
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
|
16061565 |
2005 |
Multiple congenital anomalies
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
|
15793702 |
2005 |
Multiple congenital anomalies
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
|
16061565 |
2005 |