Page 271 - 17_Atti_SNO_2023_flip

Proceedings SNO “LXII Congresso Nazionale SNO”

2. Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier
Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S,
E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM,
Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier Gerard B, Ghoumid J. MED13L-related intellectual disability:
A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, involvement of missense variants and delineation of the phe-
Fournier C, Francannet C, Genevieve D, Giurgea I, Golden- notype. Neurogenetics 2018; 19 (2): 93-103.
berg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena 3. Yi Z, Zhang Y, Song Z, Pan H, Yang C, Li F, Xue J, Qu Z.
BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Report of a de novo c.2605C > T (p.Pro869Ser) change in the
Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche- MED13L gene and review of the literature for MED13L-re-
Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, lated intellectual disability. Ital J Pediatr 2020; 46 (1): 95.

- 269 -