Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
NTNG2基因的纯合错义变异（编码突触前Netrin-G2黏附蛋白）会导致一种独特的神经发育障碍。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.09.025
Dias, Caroline M; Punetha, Jaya; Zheng, Céline; Mazaheri, Neda; Rad, Abolfazl; Efthymiou, Stephanie; Petersen, Andrea; Dehghani, Mohammadreza; Pehlivan, Davut; Partlow, Jennifer N; Posey, Jennifer E; Salpietro, Vincenzo; Gezdirici, Alper; Malamiri, Reza Azizi; Al Menabawy, Nihal M; Selim, Laila A; Vahidi Mehrjardi, Mohammad Yahya; Banu, Selina; Polla, Daniel L; Yang, Edward; Rezazadeh Varaghchi, Jamileh; Mitani, Tadahiro; van Beusekom, Ellen; Najafi, Maryam; Sedaghat, Alireza; Keller-Ramey, Jennifer; Durham, Leslie; Coban-Akdemir, Zeynep; Karaca, Ender; Orlova, Valeria; Schaeken, Lieke L M; Sherafat, Amir; Jhangiani, Shalini N; Stanley, Valentina; Shariati, Gholamreza; Galehdari, Hamid; Gleeson, Joseph G; Walsh, Christopher A; Lupski, James R; Seiradake, Elena; Houlden, Henry; van Bokhoven, Hans; Maroofian, Reza
