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

• मुख्य लेखकों: Haiyan Yang (लेखक), Fang Cai (लेखक), Hongmei Liao (लेखक), Siyi Gan (लेखक), Ting Xiao (लेखक), Liwen Wu (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2021-08-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...