Article
Arterial tortuosity syndrome: 40 new families and literature review.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2018
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, Kornak Uwe, 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
Abstract excerpt
PURPOSE: 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. METHODS: We retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron...
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