Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)
两名患有口面指综合征 II 型（莫尔综合征）的兄弟姐妹携带 NEK1 复合杂合变异
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2016.103
Monroe, Glen R; Kappen, Isabelle Fpm; Stokman, Marijn F; Terhal, Paulien A; van den Boogaard, Marie-José H; Savelberg, Sanne Mc; van der Veken, Lars T; van Es, Robert Jj; Lens, Susanne M; Hengeveld, Rutger C; Creton, Marijn A; Janssen, Nard G; Mink van der Molen, Aebele B; Ebbeling, Michelle B; Giles, Rachel H; Knoers, Nine V; van Haaften, Gijs
