Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Human Mutation
Meester, Josephina A N JAN; Sukalo, Maja M; Schröder, Kim C KC; Schanze, Denny D; Baynam, Gareth G; Borck, Guntram G; Bramswig, Nuria C NC; Duman, Duygu D; Gilbert-Dussardier, Brigitte B; Holder-Espinasse, Muriel M; Itin, Peter P; Johnson, Diana S DS; Joss, Shelagh S; Koillinen, Hannele H; McKenzie, Fiona F; Morton, Jenny J; Nelle, Heike H; Reardon, Willie W; Roll, Claudia C; Salih, Mustafa A MA; Savarirayan, Ravi R; Scurr, Ingrid I; Splitt, Miranda M; Thompson, Elizabeth E; Titheradge, Hannah H; Travers, Colm P CP; Van Maldergem, Lionel L; Whiteford, Margo M; Wieczorek, Dagmar D; Vandeweyer, Geert G; Trembath, Richard R; Van Laer, Lut L; Loeys, Bart L BL; Zenker, Martin M; Southgate, Laura L; Wuyts, Wim W
Publication Date: 2018-09
Variant appearance in text: NOTCH1: 6100T>C; Trp2034Arg