present in Gene: FBN1
present in Chromosome: 15
Position on Chromosome: 48432947
Alleles of this Variant: G/A
rs113001196 in
FBN1 gene and
Dysmorphic features
PMID 25979247 2015 A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.
PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.
PMID 23897642 2013 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
PMID 3536967 1986 Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.
PMID 24039054 2013 Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
PMID 20591885 2010 The revised Ghent nosology for the Marfan syndrome.
PMID 21594993 2011 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
PMID 17253931 2006 Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.
PMID 21594992 2011 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.
PMID 21683322 2011 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.
PMID 16333834 2006 Molecular pathology of Shprintzen-Goldberg syndrome.
PMID 8563763 1996 Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.
PMID 23278365 2013 Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
PMID 25736269 2015 FBN1 contributing to familial congenital diaphragmatic hernia.
PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
PMID 20979188 2010 Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
PMID 25101912 2015 Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
PMID 20375004 2010 Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
PMID 26026792 2015 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
PMID 8941093 1996 Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.
PMID 23133647 2012 Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
PMID 12651868 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.
PMID 24665001 2014 De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
PMID 15241795 2004 Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
PMID 16273536 2005 Genetic basis of thoracic aortic aneurysms and aortic dissections.
PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
PMID 23684891 2013 Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.
PMID 27112580 2016 Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.
PMID 11139245 2001 Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.
PMID 29357934 2018 The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
PMID 17657824 2007 The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
rs113001196 in
FBN1 gene and
Marfan Syndrome
PMID 23684891 2013 Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.
PMID 11139245 2001 Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.
PMID 27112580 2016 Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.
PMID 21907952 2011 Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene.
PMID 22772377 2013 Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
PMID 17657824 2007 The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
PMID 29357934 2018 The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
rs113001196 in
FBN1 gene and
Multiple congenital anomalies
PMID 23897642 2013 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
PMID 24665001 2014 De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
PMID 23278365 2013 Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
PMID 21683322 2011 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
PMID 23133647 2012 Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
PMID 21594993 2011 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.
PMID 25979247 2015 A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.
PMID 8563763 1996 Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.
PMID 20591885 2010 The revised Ghent nosology for the Marfan syndrome.
PMID 24039054 2013 Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
PMID 16333834 2006 Molecular pathology of Shprintzen-Goldberg syndrome.
PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
PMID 15241795 2004 Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
PMID 8941093 1996 Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.
PMID 3536967 1986 Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.
PMID 25101912 2015 Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
PMID 20375004 2010 Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
PMID 16273536 2005 Genetic basis of thoracic aortic aneurysms and aortic dissections.
PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
PMID 26026792 2015 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
PMID 20979188 2010 Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
PMID 21594992 2011 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.
PMID 25736269 2015 FBN1 contributing to familial congenital diaphragmatic hernia.
PMID 12651868 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.
PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.
PMID 14598350 2003 Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
PMID 17253931 2006 Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.
rs113001196 in
FBN1 gene and
Overgrowth
PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.
PMID 24039054 2013 Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
PMID 25101912 2015 Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
PMID 15241795 2004 Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
PMID 23133647 2012 Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
PMID 23897642 2013 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
PMID 24665001 2014 De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
PMID 17253931 2006 Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.
PMID 23278365 2013 Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
PMID 20979188 2010 Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
PMID 21594992 2011 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.
PMID 20375004 2010 Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
PMID 3536967 1986 Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.
PMID 25736269 2015 FBN1 contributing to familial congenital diaphragmatic hernia.
PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.
PMID 26026792 2015 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
PMID 16273536 2005 Genetic basis of thoracic aortic aneurysms and aortic dissections.
PMID 21594993 2011 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
PMID 20591885 2010 The revised Ghent nosology for the Marfan syndrome.
PMID 25979247 2015 A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.
PMID 16333834 2006 Molecular pathology of Shprintzen-Goldberg syndrome.
PMID 8941093 1996 Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.
PMID 8563763 1996 Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.
PMID 21683322 2011 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
PMID 14598350 2003 Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
PMID 12651868 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.