|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
|
23278365 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
|
24039054 |
2013 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
|
23897642 |
2013 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
|
22772377 |
2013 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.
|
23684891 |
2013 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
|
24039054 |
2013 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
|
24039054 |
2013 |
|
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.
|
23684891 |
2013 |
|
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
|
22772377 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
|
23278365 |
2013 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
|
23897642 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
|
23897642 |
2013 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
|
23278365 |
2013 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
|
23133647 |
2012 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
|
23133647 |
2012 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
|
23133647 |
2012 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.
|
21594992 |
2011 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
|
21683322 |
2011 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
|
21594993 |
2011 |
|
Marfan Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene.
|
21907952 |
2011 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.
|
21594992 |
2011 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
|
21683322 |
2011 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.
|
21594992 |
2011 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
|
21594993 |
2011 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
|
21683322 |
2011 |