학술논문
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
Document Type
Article
Author
Hijazi, H.; Pehlivan, D.; Li, Y.; Fatih, J.M.; Marafi, D.; Rosenfeld, J.A.; Coban-Akdemir, Z.; Bi, W.; Gibbs, R.A.; Carvalho, C.M.B.; Posey, J.E.; Lupski, J.R.; Reis, L.M.; Muriello, M.; Syverson, E.; Semina, E.V.; Bernstein, J.A.; Bonner, D.; Estiar, M.A.; Gan-Or, Z.; Rouleau, G.A.; Lyulcheva, E.; Greenhalgh, L.; Tessarech, M.; Colin, E.; Guichet, A.; Bonneau, D.; van Jaarsveld, R.H.; Lachmeijer, A.M.A.; Ruaud, L.; Levy, J.; Tabet, A.-C.; Ploski, R.; Rydzanicz, M.; Kępczyński, Ł.; Połatyńska, K.; Hobson, G.M.; Hunter, J.V.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 1 December 2022, 109(12):2270-2282)
Subject
Language
English
ISSN
15376605
00029297
00029297