rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
0.800
GeneticVariation
UNIPROT
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.
27196565
2016
rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
0.800
GeneticVariation
UNIPROT
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.
25834781
2015
rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
0.800
GeneticVariation
UNIPROT
Evaluation of the adolescent or adult with some features of Marfan syndrome.
22237449
2012
rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
0.800
GeneticVariation
UNIPROT
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.
20799338
2010
rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
A
0.800
GeneticVariation
CLINVAR
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
18767143
2009
rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
0.800
GeneticVariation
UNIPROT
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
19006240
2009
rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
A
0.800
GeneticVariation
CLINVAR
Fibrillin-1 misfolding and disease.
16677079
2006
rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
0.800
GeneticVariation
UNIPROT
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.
11754102
2002
rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
0.800
GeneticVariation
UNIPROT
Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.
10797416
2000
rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
0.800
GeneticVariation
UNIPROT
Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.
9714438
1998
rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
0.800
GeneticVariation
UNIPROT
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.
9737771
1998
rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
0.800
GeneticVariation
UNIPROT
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
7493032
1995
rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
A
0.800
GeneticVariation
CLINVAR
The solution structure of human epidermal growth factor.
3495735
1987
rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
A
0.800
GeneticVariation
CLINVAR
Epidermal growth factor. Location of disulfide bonds.
4750422
1973
rs1206843725
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Congenital contractural arachnodactyly
A
0.800
CausalMutation
CLINVAR