The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature
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Pellikaan, K.; van Woerden, G.M.; Kleinendorst, L.; Rosenberg, A.G.W.; Horsthemke, B.; Grosser, C.; van Zutven, L.J.C.M.; van Rossum, E.F.C.; van der Lely, A.J.; Resnick, J.L.; Brüggenwirth, H.T.; van Haelst, M.M.; de Graaff, L.C.G. The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature. Genes 2021, 12, 875. https://doi.org/10.3390/genes12060875
Pellikaan K, van Woerden GM, Kleinendorst L, Rosenberg AGW, Horsthemke B, Grosser C, van Zutven LJCM, van Rossum EFC, van der Lely AJ, Resnick JL, Brüggenwirth HT, van Haelst MM, de Graaff LCG. The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature. Genes. 2021; 12(6):875. https://doi.org/10.3390/genes12060875
Chicago/Turabian StylePellikaan, Karlijn, Geeske M. van Woerden, Lotte Kleinendorst, Anna G. W. Rosenberg, Bernhard Horsthemke, Christian Grosser, Laura J. C. M. van Zutven, Elisabeth F. C. van Rossum, Aart J. van der Lely, James L. Resnick, Hennie T. Brüggenwirth, Mieke M. van Haelst, and Laura C. G. de Graaff. 2021. "The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature" Genes 12, no. 6: 875. https://doi.org/10.3390/genes12060875