CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.
|
22943132 |
2012 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Comparison of intravenous and topical lidocaine as a suppressant of coughing after bronchoscopy during general anesthesia.
|
2038931 |
1991 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
|
17937443 |
2007 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
|
17937443 |
2007 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
|
17937443 |
2007 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
|
16685658 |
2006 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
|
16685658 |
2006 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa.
|
27339457 |
2016 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.
|
19664000 |
2009 |