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, RLangue:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2016.103
Date:
August, 2016
Fichier:
PDF, 1.25 MB
english, 2016
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