Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration

• Κύριοι συγγραφείς: Haiyan Yang (Συγγραφέας), Fang Cai (Συγγραφέας), Hongmei Liao (Συγγραφέας), Siyi Gan (Συγγραφέας), Ting Xiao (Συγγραφέας), Liwen Wu (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Frontiers Media S.A., 2021-08-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

ISPD gene mutation-related diseases have high clinical and genetic heterogeneity, and no studies have yet reported any effective treatments. We describe six patients with dystroglycanopathies caused by ISPD gene mutations and analyze their genotypes and phenotypes to explore possible effective treat...