rs104893810
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.710
CausalMutation
CLINVAR
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
15731757
2005
rs104893810
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.710
CausalMutation
CLINVAR
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.
21098638
2010
rs104893810
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
0.710
GeneticVariation
BEFREE
A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.
19875893
2009
rs104893810
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.710
CausalMutation
CLINVAR
TGFβ receptor mutations impose a strong predisposition for human allergic disease.
23884466
2013
rs104893810
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.710
CausalMutation
CLINVAR
Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.
17330129
2007
rs104893810
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.710
CausalMutation
CLINVAR
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
18781618
2008
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
0.010
GeneticVariation
BEFREE
Neonatal assessment showed craniofacial and cardiovascular findings suggestive of LDS whose diagnosis was confirmed by the detection of a novel mutation (HGVN: NM_003242.5 (TGFBR2): c.1381T > C (p.(Cys461Arg) )) in the TGFBR2 gene.
28344185
2017
rs104893815
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
A
0.700
CausalMutation
CLINVAR
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
15731757
2005
rs104893815
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
A
0.700
CausalMutation
CLINVAR
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
16928994
2006
rs104893819
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.700
CausalMutation
CLINVAR
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
16928994
2006
rs104893819
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.700
GeneticVariation
CLINVAR
rs104893819
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.700
CausalMutation
CLINVAR
Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?
21267002
2011
rs104893819
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.700
CausalMutation
CLINVAR
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
22113417
2012
rs104893819
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.700
CausalMutation
CLINVAR
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
17935258
2008
rs104893819
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.700
CausalMutation
CLINVAR
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).
27879313
2016
rs104893819
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.700
CausalMutation
CLINVAR
A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
18084123
2007
rs193922660
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
G
0.700
GeneticVariation
CLINVAR
rs193922664
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
C
0.700
GeneticVariation
CLINVAR
rs193922665
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.700
GeneticVariation
CLINVAR
rs397516840
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.700
GeneticVariation
CLINVAR
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
16799921
2006
rs397516840
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.700
GeneticVariation
CLINVAR
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
16928994
2006
rs587782979
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
A
0.700
GeneticVariation
CLINVAR
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
16928994
2006
rs61762550
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
0.010
GeneticVariation
BEFREE
This study describes the generation of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells obtained from an LDS patient with TGFBR2 mutation (R193W ).
28395736
2017
rs727503475
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
A
0.700
GeneticVariation
CLINVAR
rs727503475
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
T
0.700
CausalMutation
CLINVAR