Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

Van Bergen, Nicole J; Guo, Yiran; Al-Deri, Noraldin; Lipatova, Zhanna; Stanga, Daniela; Zhao, Sarah; Murtazina, Rakhilya; Gyurkovska, Valeriya; Pehlivan, Davut; Mitani, Tadahiro; Gezdirici, Alper; Antony, Jayne; Collins, Felicity; Willis, Mary J H; Coban Akdemir, Zeynep H; Liu, Pengfei; Punetha, Jaya; Hunter, Jill V; Jhangiani, Shalini N; Fatih, Jawid M; Rosenfeld, Jill A; Posey, Jennifer E; Gibbs, Richard A; Karaca, Ender; Massey, Sean; Ranasinghe, Thisara G; Sleiman, Patrick; Troedson, Chris; Lupski, James R; Sacher, Michael; Segev, Nava; Hakonarson, Hakon; Christodoulou, John

期刊名称Brain
作者Van Bergen, Nicole J; Guo, Yiran; Al-Deri, Noraldin; Lipatova, Zhanna; Stanga, Daniela; Zhao, Sarah; Murtazina, Rakhilya; Gyurkovska, Valeriya; Pehlivan, Davut; Mitani, Tadahiro; Gezdirici, Alper; Antony, Jayne; Collins, Felicity; Willis, Mary J H; Coban Akdemir, Zeynep H; Liu, Pengfei; Punetha, Jaya; Hunter, Jill V; Jhangiani, Shalini N; Fatih, Jawid M; Rosenfeld, Jill A; Posey, Jennifer E; Gibbs, Richard A; Karaca, Ender; Massey, Sean; Ranasinghe, Thisara G; Sleiman, Patrick; Troedson, Chris; Lupski, James R; Sacher, Michael; Segev, Nava; Hakonarson, Hakon; Christodoulou, John
印刷ISSN0006-8950
电子ISSN1460-2156
文件大小2024.85KB
发表时间2019-12-03
DOI10.1093/brain/awz374

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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability