Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)

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

期刊名称European Journal of Human Genetics
作者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
印刷ISSN1018-4813
电子ISSN1476-5438
文件大小1277.19KB
发表时间2016-08-17
DOI10.1038/ejhg.2016.103

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Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)