MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.
|
26860060 |
2016 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Asprosin, a Fasting-Induced Glucogenic Protein Hormone.
|
27087445 |
2016 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
|
24613577 |
2014 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
|
24665001 |
2014 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
Biomarker
|
disease |
BEFREE |
We propose that this marfanoid entity comprised of congenital lipodystrophy, a neonatal progeroid appearance, and a peculiar growth profile and caused by rare mutations in the penultimate exon of FBN1, be newly referred to as marfanoid-progeroid syndrome.
|
24039054 |
2013 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
We propose that this marfanoid entity comprised of congenital lipodystrophy, a neonatal progeroid appearance, and a peculiar growth profile and caused by rare mutations in the penultimate exon of FBN1, be newly referred to as marfanoid-progeroid syndrome.
|
24039054 |
2013 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
|
21594993 |
2011 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
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 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
|
21594993 |
2011 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
FBN1 mutations in patients with descending thoracic aortic dissections.
|
20082464 |
2010 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
|
20979188 |
2010 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
|
7762551 |
1995 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.
|
1301946 |
1992 |
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
MARFAN LIPODYSTROPHY SYNDROME
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|