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Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia
Smigiel, Robert, Sherman, Diane L, Rydzanicz, Małgorzata, Walczak, Anna, Mikolajkow, Dorota, Krolak-Olejnik, Barbara, Kosińska, Joanna, Gasperowicz, Piotr, Biernacka, Anna, Stawinski, Piotr, MarciniakLanguage:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddy277
Date:
August, 2018
File:
PDF, 9.38 MB
english, 2018