Associazione VATER/VACTERL

di riferimento • Castori M, Rinaldi R, Cappellacci S, Grammatico P. Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association. Am J Med Genet A 2008;146A(10): 1259-66. doi: 10.1002/ajmg.a.32288. • Chaturvedi A, Klionsky NB, Nadarajah U, Chaturvedi A, Meyers SP. Malformed vertebrae: a clinical and imaging review. Insights Imaging 2018;9(3):343-355. doi: 10.1007/s13244-018-0598-1. • Hall B. VATER association. In: Cassidy S, Allanson J. Management of genetic syndromes. Wiley-Liss 2001, pp. 485-94. • Selicorni A., Zampino G., Memo L., Scarano G. Le sindromi malformative: una guida per il pediatra. Collana Monografica della Società Italiana di Pediatria. 2017. • Solomon BD, Pineda-Alvarez DE, Raam MS, Cummings DA. Evidence for inheritance in patients with VACTERL association. Hum Genet 2010;127(6):731-3. doi: 10.1007/s00439-010-0814-7. • Solomon BD. The etiology of VACTERL association: Current knowledge and hypotheses. Am J Med Genet C Semin Med Genet 2018;178(4):440-446. doi: 10.1002/ajmg.c.31664. • Solomon BD. VACTERL/VATER Association. Orphanet J Rare Dis 2011;6:56. doi: 10.1186/1750-1172-6-56. • van de Putte R, Dworschak GC, Brosens E, Reutter HM, et al.A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. Front Pediatr 2020;8:310. doi: 10.3389/fped.2020.00310.