Associated Papers
Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration.
Yang H et al.
Frontiers in Pediatrics, 2021
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Zaganas I et al.
Molecular Genetics and Metabolism Reports, 2020
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Vuillaumier-Barrot S et al.
American Journal of Human Genetics, 2012
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