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Arterial tortuosity syndrome in two Italian paediatric patients.
Ritelli M, Drera B, Vicchio M, Puppini G, Biban P, Pilati M, Prioli MA, Barlati S, Colombi M. Ritelli M, et al. Orphanet J Rare Dis. 2009 Sep 25;4:20. doi: 10.1186/1750-1172-4-20. Orphanet J Rare Dis. 2009. PMID: 19781076 Free PMC article.
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM. Callewaert BL, et al. Hum Mutat. 2008 Jan;29(1):150-8. doi: 10.1002/humu.20623. Hum Mutat. 2008. PMID: 17935213