Arterial tortuosity syndrome: 40 new families and literature review.

Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, ÖZLEM; Boute, Odile; Busa, Tiffany; Canham, Nathalie; ÇİL, ERGÜN; Coucke, Paul; Cousin, Margot; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; Devriendt, Koenraad; De Wandele, Inge; Deyle, David; Dietz, Harry; Dupuis-Girod, Sophie; Fontenot, Eudice; Fischer-Zirnsak, Bjoern; Gezdirici, Alper; Ghoumid, Jamal; Giuliano, Fabienne; Baena Diez, Neus; Haider, Mohammed; Hardin, Joshua; Jeunemaitre, Xavier; Klee, Eric; Kornak, Uwe; Landecho, Manuel; Legrand, Anne; Loeys, Bart; Lyonnet, Stanislas; Michael, Helen; Moceri, Pamela; Mohammed, Shehla; Muino-Mosquera, Laura; Nampoothiri, Sheela; Pichler, Karin; Prescott, Katrina; Rajeb, Anna; Ramos-Arroyo, Maria; Rossi, Massimiliano; Salih, Mustafa; Seidahmed, Mohammed; Schaefer, Elise; Steichen-Gersdorf, Elisabeth; Temel, ŞEHİME; Uysal, FAHRETTİN; Vanhomwegen, Marine; Van Laer, Lut; Van Maldergem, Lionel; Warner, David; Willaert, Andy; Collins, Tom; Taylor, Andrea; Davis, Elaine; Zarate, Yuri; Callewaert, Bert

doi:10.1038/gim.2017.253

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A., Albuisson J., Boel A., Al-Essa M., Al-Manea W., Bonnet D., ...Daha Fazla

Genetics in medicine : official journal of the American College of Medical Genetics, cilt.20, sa.10, ss.1236-1245, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 20 Sayı: 10
Basım Tarihi: 2018
Doi Numarası: 10.1038/gim.2017.253
Dergi Adı: Genetics in medicine : official journal of the American College of Medical Genetics
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1236-1245
Anahtar Kelimeler: aneurysm, arterial tortuosity syndrome, electron microscopy, GLUT10, SLC2A10, RECESSIVE CUTIS LAXA, MARFAN-SYNDROME, MUTATIONS, PULMONARY, GLUT10, VESSELS, SYSTEM
Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.