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

• Main Authors: Haiyan Yang (Author), Fang Cai (Author), Hongmei Liao (Author), Siyi Gan (Author), Ting Xiao (Author), Liwen Wu (Author)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2021-08-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...