Fiche publication
Date publication
octobre 2018
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Dr ALBUISSON Juliette
Tous les auteurs :
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B
Lien Pubmed
Résumé
We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.
Mots clés
Adolescent, Adult, Aorta, diagnostic imaging, Arteries, abnormalities, Biopsy, Child, Child, Preschool, Connective Tissue Growth Factor, genetics, Female, Glucose Transport Proteins, Facilitative, genetics, Hernia, Diaphragmatic, genetics, Humans, Infant, Joint Instability, epidemiology, Male, Mutation, Pedigree, Respiratory Distress Syndrome, Newborn, genetics, Skin, pathology, Skin Diseases, Genetic, epidemiology, Smad2 Protein, genetics, Transforming Growth Factor beta, genetics, Vascular Malformations, epidemiology
Référence
Genet Med. 2018 10;20(10):1236-1245
