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

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...

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Detalles Bibliográficos
Autores principales: Yang, Haiyan, Cai, Fang, Liao, Hongmei, Gan, Siyi, Xiao, Ting, Wu, Liwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8416436/
https://www.ncbi.nlm.nih.gov/pubmed/34485198
http://dx.doi.org/10.3389/fped.2021.710553

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8416436/
https://www.ncbi.nlm.nih.gov/pubmed/34485198
http://dx.doi.org/10.3389/fped.2021.710553

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