Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Titel:
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Auteur:
Stray-Pedersen, Asbjørg Cobben, Jan-Maarten Prescott, Trine E. Lee, Sora Cang, Chunlei Aranda, Kimberly Ahmed, Sohnee Alders, Marielle Gerstner, Thorsten Aslaksen, Kathinka Tétreault, Martine Qin, Wen Hartley, Taila Jhangiani, Shalini N. Muzny, Donna M. Tarailo-Graovac, Maja van Karnebeek, Clara D.M. Lupski, James R. Ren, Dejian Yoon, Grace