Arterial tortuosity syndrome: 40 new families and literature review

ISSN
1098-3600
Date Issued
2018
Author(s)
Beyens, Aude
Albuisson, Juliette
Boel, Annekatrien
Al-Essa, Mazen
Al-Manea, Waheed
Bonnet, Damien
Bostan, Ozlem
Boute, Odile
Busa, Tiffany
Canham, Nathalie
Cil, Ergun
Coucke, Paul J
Cousin, Margot A
Dasouki, Majed
De Backer, Julie
De Paepe, Anne
De Schepper, Sofie
De Silva, Deepthi
Devriendt, Koenraad
De Wandele, Inge
Deyle, David R
Dietz, Harry
Dupuis-Girod, Sophie
Fontenot, Eudice
Fischer-Zirnsak, Björn
Gezdirici, Alper
Ghoumid, Jamal
Giuliano, Fabienne
Diéz, Neus Baena
Haider, Mohammed Z
Hardin, Joshua S
Jeunemaitre, Xavier
Klee, Eric W
Landecho, Manuel F
Legrand, Anne
Loeys, Bart
Lyonnet, Stanislas
Michael, Helen
Moceri, Pamela
Mohammed, Shehla
Muiño-Mosquera, Laura
Nampoothiri, Sheela
Pichler, Karin
Prescott, Katrina
Rajeb, Anna
Ramos-Arroyo, Maria
Rossi, Massimiliano
Salih, Mustafa
Seidahmed, Mohammed Z
Schaefer, Elise
Steichen-Gersdorf, Elisabeth
Temel, Sehime
Uysal, Fahrettin
Vanhomwegen, Marine
Van Laer, Lut
Van Maldergem, Lionel
Warner, David
Willaert, Andy
Collins, Tom R
Taylor, Andrea
Davis, Elaine C
Zarate, Yuri
Callewaert, Bert
DOI
10.1038/gim.2017.253
Abstract
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.