Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

Source :

• American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2009-05.

Descripteurs français

• Pascal (Inist)
  • Adulte, Critère, Diagnostic, Gène, Malade, Mutation, Pathogène, Pathogénie, Phénotype, Symptomatologie, Syndrome de Marfan.
• Wicri :
  • topic : Adulte, Génétique.

English descriptors

• KwdEn :
  • Adult, Adult propositi, Aneurysm, Aortic, Aortic dilatation, Boileau, Brillin gene, Cardiovascular, Cohort, Comeglio, Criterion, Cysteine, Diagnosis, Diagnostic criteria, Dietz, Dijon, Dural, Dural ectasia, Ectasia, Ectopia, Ectopia lentis, Faivre, Family history, Family members, Fbn1, Fbn1 gene, Fbn1 mutation, Fbn1 mutations, Francke, Gene, Genet, Genet part, Genetics, Ghent, Ghent nosology, Henikoff, International criteria, International study, Lentis, Loeys, Major criteria, Major criterion, Marfan, Marfan syndrome, Medical genetics part, Milewicz, Minor criteria, Minor criterion, Missense, Missense mutation, Missense mutations, Mutation, Nosology, Organ system, Organ systems, Other type, Paepe, Pathogenesis, Pathogenic, Pathogenic fbn1 mutation, Patient, Phenotype, Positive family history, Premature truncation, Propositus, Protrusion acetabuli, Pyeritz, Skeletal system, Symptomatology, Syndrome, Thoracic aortic aneurysms.
• Teeft :
  • Adult propositi, Aneurysm, Aortic, Aortic dilatation, Boileau, Brillin gene, Cardiovascular, Cohort, Comeglio, Criterion, Cysteine, Diagnostic criteria, Dietz, Dijon, Dural, Dural ectasia, Ectasia, Ectopia, Ectopia lentis, Faivre, Family history, Family members, Fbn1, Fbn1 gene, Fbn1 mutation, Fbn1 mutations, Francke, Genet, Genet part, Genetics, Ghent, Ghent nosology, Henikoff, International criteria, International study, Lentis, Loeys, Major criteria, Major criterion, Marfan, Marfan syndrome, Medical genetics part, Milewicz, Minor criteria, Minor criterion, Missense, Missense mutation, Missense mutations, Mutation, Nosology, Organ system, Organ systems, Other type, Paepe, Pathogenic fbn1 mutation, Phenotype, Positive family history, Premature truncation, Propositus, Protrusion acetabuli, Pyeritz, Skeletal system, Syndrome, Thoracic aortic aneurysms.

Abstract

• https://api.istex.fr/document/B99063646751FB28E209A75FAD443720176D2B14/fulltext/pdf

Affiliations:

• Allemagne, Australie, Belgique, France, Italie, Royaume-Uni, États-Unis
• Angleterre, Basse-Saxe, Berlin, Bourgogne, Bourgogne-Franche-Comté, Californie, Grand Londres, Languedoc-Roussillon, Maryland, Nouvelle-Galles du Sud, Occitanie (région administrative), Île-de-France
• Berlin, Dijon, Hanovre, Londres, Montpellier, Paris, Sydney
• Université Montpellier 1, Université de Sydney

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