Biallelic variants in KIF14 cause intellectual disability with microcephaly
KIF14基因的双等位基因变异会导致伴有小头畸形的智力障碍
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-017-0088-9
Makrythanasis, Periklis; Maroofian, Reza; Stray-Pedersen, Asbjørg; Musaev, Damir; Zaki, Maha S; Mahmoud, Iman G; Selim, Laila; Elbadawy, Amera; Jhangiani, Shalini N; Coban Akdemir, Zeynep H; Gambin, Tomasz; Sorte, Hanne S; Heiberg, Arvid; McEvoy-Venneri, Jennifer; James, Kiely N; Stanley, Valentina; Belandres, Denice; Guipponi, Michel; Santoni, Federico A; Ahangari, Najmeh; Tara, Fatemeh; Doosti, Mohammad; Iwaszkiewicz, Justyna; Zoete, Vincent; Backe, Paul Hoff; Hamamy, Hanan; Gleeson, Joseph G; Lupski, James R; Karimiani, Ehsan Ghayoor; Antonarakis, Stylianos E