TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
Hadia Hijazi, Linda M. Reis, Davut Pehli̇van, Jonathan A. Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A. Estiar, Ziv Gan‐Or, Guy A. Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, Richard H. van Jaarsveld, A.M.A. Lachmeijer, Lyse Ruaud, Jonathan Lévy, Anne‐Claude Tabet, Rafał Płoski, Małgorzata Rydzanicz, Łukasz Kępczyński, Katarzyna Połatyńska, Yidan Li, Jawid M. Fatih, Dana Marafi, Jill A. Rosenfeld, Zeynep Coban‐Akdemir, Weimin Bi, Richard A. Gibbs, Grace M. Hobson, Jill V. Hunter, Claudia M.B. Carvalho, Jennifer E. Posey, Elena V. Semina, James R. Lupski
Topics & Concepts
HypotoniaGeneticsIntellectual disabilityAlleleFrameshift mutationMissense mutationAutismBiologyCompound heterozygosityExome sequencingVentriculomegalyLissencephalyPhenotypeMedicineGenePsychiatryFetusPregnancyGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases