论文信息 - 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 - 字舞流文

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

B. Horsthemke | A. J. van der Lely | E. V. van Rossum | L. V. van Zutven | J. Resnick | H. Brüggenwirth | A. Rosenberg | K. Pellikaan | M. V. van Haelst | G. V. van Woerden | L. Kleinendorst | L. D. de Graaff | Christian Grosser