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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

Title:	MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
Authors:	Smol, T.^{Aff1, Aff2}; Petit, F.^{Aff2, Aff3}; Piton, A.^Aff4; Keren, B.^Aff5; Sanlaville, D.^Aff6; Afenjar, A.^Aff7; Baker, S.^Aff8; Bedoukian, E. C.^Aff9; Bhoj, E. J.^Aff8; Bonneau, D.^Aff10; Boudry-Labis, E.^Aff1; Bouquillon, S.^Aff1; Boute-Benejean, O.^{Aff2, Aff3}; Caumes, R.^Aff3; Chatron, N.^Aff6; Colson, C.^{Aff2, Aff3}; Coubes, C.^Aff11; Coutton, C.^Aff12; Devillard, F.^Aff12; Dieux-Coeslier, A.^{Aff2, Aff3}; Doco-Fenzy, M.^Aff13; Ewans, L. J.^Aff14; Faivre, L.^{Aff15, Aff16}; Fassi, E.^Aff17; Field, M.^Aff18; Fournier, C.^Aff4; Francannet, C.^Aff19; Genevieve, D.^Aff11; Giurgea, I.^Aff20; Goldenberg, A.^Aff21; Green, A. K.^Aff22; Guerrot, A. M.^Aff21; Heron, D.^Aff5; Isidor, B.^Aff23; Keena, B. A.^Aff24; Krock, B. L.^Aff8; Kuentz, P.^Aff16; Lapi, E.^Aff25; Le Meur, N.^Aff21; Lesca, G.^Aff6; Li, D.^Aff8; Marey, I.^Aff5; Mignot, C.^Aff5; Nava, C.^Aff5; Nesbitt, A.^Aff8; Nicolas, G.^Aff21; Roche-Lestienne, C.^Aff1; Roscioli, T.^Aff14; Satre, V.^Aff12; Santani, A.^Aff8; Stefanova, M.^Aff22; Steinwall Larsen, S.^Aff22; Saugier-Veber, P.^Aff21; Picker-Minh, S.^Aff26; Thuillier, C.^Aff1; Verloes, A.^Aff27; Vieville, G.^Aff12; Wenzel, M.^Aff24; Willems, M.^Aff11; Whalen, S.^Aff5; Zarate, Y. A.^Aff28; Ziegler, A.^Aff10; Manouvrier-Hanu, S.^{Aff2, Aff3}; Kalscheuer, V. M.^Aff29; Gerard, B.^Aff4; Ghoumid, Jamal^{Aff2, Aff3, IDs1004801805410_cor66}
Source:	neurogenetics. 19(2):93-103
Database:	Springer Nature Journals