Hijazi, Hadia; Reis, Linda M; Pehlivan, Davut; Bernstein, Jonathan A; Muriello, Michael; Syverson, Erin; Bonner, Devon; Estiar, Mehrdad A; Gan-Or, Ziv; Rouleau, Guy A; Lyulcheva, Ekaterina; Greenhalgh, Lynn; Tessarech, Marine; Colin, Estelle; Guichet, Agnès; Bonneau, Dominique; van Jaarsveld, R H; Lachmeijer, A M A; Ruaud, Lyse; Levy, Jonathan; Tabet, Anne-Claude; Ploski, Rafal; Rydzanicz, Małgorzata; Kępczyński, Łukasz; Połatyńska, Katarzyna; Li, Yidan; Fatih, Jawid M; Marafi, Dana; Rosenfeld, Jill A; Coban-Akdemir, Zeynep; Bi, Weimin; Gibbs, Richard A; Hobson, Grace M; Hunter, Jill V; Carvalho, Claudia M B; Posey, Jennifer E; Semina, Elena V; Lupski, James R
(Cell Press, 2022-12-01)
An Xq22.2 region upstream of PLP1 has been proposed to underly a neurological disease trait when deleted in 46,XX females. Deletion mapping revealed that heterozygous deletions encompassing the smallest region of overlap ...