RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation

RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation

Source :

• Human Mutation [ 1059-7794 ] ; 2013-12.

Descripteurs français

• Wicri :
  • topic : Génétique.

English descriptors

• KwdEn :
  • Allele, Anomaly, Capillary malformation, Clinical diagnosis, Dermatology, Dhplc, Eerola, Family history, Family members, Galen aneurysmal malformation, Genet, Genetics, Germline, Germline mutation, Germline rasa1 mutation, Halo, Hereditary, Hereditary hemorrhagic telangiectasia, Hershkovitz, Hospital sant joan, Human mutation, Index patients, Lesion, Malformation, Multifocal, Mutation, Parkes, Parkes weber lesion, Parkes weber syndrome, Pediatric dermatology, Phenotype, Phenotypic, Rasa1, Rasa1 gene, Rasa1 mutation, Rasa1 mutations, Rasa1 mutations cause, Revencu, Right foot, Silico analysis, Somatic, Syndrome, Telangiectasia, Thiex, Universite, Universite catholique, Vascular, Vascular lesions, Vascular malformation, Vascular malformations, Vikkula, Weber.
• Teeft :
  • Allele, Anomaly, Capillary malformation, Clinical diagnosis, Dermatology, Dhplc, Eerola, Family history, Family members, Galen aneurysmal malformation, Genet, Genetics, Germline, Germline mutation, Germline rasa1 mutation, Halo, Hereditary, Hereditary hemorrhagic telangiectasia, Hershkovitz, Hospital sant joan, Human mutation, Index patients, Lesion, Malformation, Multifocal, Mutation, Parkes, Parkes weber lesion, Parkes weber syndrome, Pediatric dermatology, Phenotype, Phenotypic, Rasa1, Rasa1 gene, Rasa1 mutation, Rasa1 mutations, Rasa1 mutations cause, Revencu, Right foot, Silico analysis, Somatic, Syndrome, Telangiectasia, Thiex, Universite, Universite catholique, Vascular, Vascular lesions, Vascular malformation, Vascular malformations, Vikkula, Weber.

Abstract

• https://api.istex.fr/document/FC7EE42BEDCCE893C1B2F7BB3F8B1329499F45A7/fulltext/pdf

Affiliations:

• Algérie, Argentine, Australie, Belgique, Canada, Espagne, France, Irlande (pays), Italie, Royaume-Uni, États-Unis
• Angleterre, Aquitaine, Basse-Normandie, Californie, Catalogne, Grand Londres, Illinois, Languedoc-Roussillon, Massachusetts, Midi-Pyrénées, Nouvelle-Aquitaine, Nouvelle-Galles du Sud, Occitanie (région administrative), Pennsylvanie, Québec, Région Normandie, Région de Bruxelles-Capitale, Wilaya d'Alger, État de New York
• Alger, Barcelone, Bordeaux, Boston, Bruxelles, Caen, Chicago, Londres, Louvain-la-Neuve, Montpellier, Montréal, Philadelphie, San Diego, Sydney, Toulouse
• Université catholique de Louvain, Université de Caen Basse-Normandie, Université libre de Bruxelles

Links toward previous steps (curation, corpus...)

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• to stream Main, to step Merge: 004B01
• to stream Main, to step Curation: 004977

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