Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

G. Astrea, A. Romano, C. Angelini, C.G. Antozzi, R. Barresi, R. Battini, C. Battisti, E. Bertini, C. Bruno, D. Cassandrini, M. Fanin, F. Fattori, C. Fiorillo, R. Guerrini, L. Maggi, E. Mercuri, F. Morani, M. Mora, F. Moro, I. PezziniE. Picillo, M. Pinelli, L. Politano, A. Rubegni, W. Sanseverino, M. Savarese, P. Striano, A. Torella, C.P. Trevisan, R. Trovato, I. Zaraieva, F. Muntoni, V. Nigro, A. D'Amico, F.M. Santorelli, Italian CMD Network

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Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., ... Network, I. CMD. (2018). Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. Orphanet Journal of Rare Diseases, 13(1). https://doi.org/10.1186/s13023-018-0863-x