rs121918487
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
A
0.700
CausalMutation
CLINVAR
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
27481450
2016
rs121918487
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
A
0.700
CausalMutation
CLINVAR
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
26362256
2015
rs121918487
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
A
0.700
CausalMutation
CLINVAR
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
25271085
2015
rs121918487
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
A
0.700
CausalMutation
CLINVAR
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
24127277
2013
rs121918487
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
A
0.700
CausalMutation
CLINVAR
Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].
12884434
2003
rs121918487
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
A
0.700
CausalMutation
CLINVAR
Screening of patients with craniosynostosis: molecular strategy.
12884424
2003
rs121918487
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
A
0.700
CausalMutation
CLINVAR
Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.
9586546
1998
rs121918487
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
A
0.700
CausalMutation
CLINVAR
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
9677057
1998
rs121918487
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
A
0.700
CausalMutation
CLINVAR
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
8644708
1996
rs121918487
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
A
0.700
CausalMutation
CLINVAR
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
7655462
1995
rs121918487
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Cutis Gyrata Syndrome of Beare And Stevenson
T
0.700
CausalMutation
CLINVAR