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

Research output: Contribution to journalArticle

Original languageEnglish
JournalOrphanet Journal of Rare Diseases
Volume13
DOIs
Publication statusPublished - 2018

Cite this

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., ... Santorelli, F. M. (2018). Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study. Orphanet Journal of Rare Diseases, 13. https://doi.org/10.1186/s13023-018-0863-x