Associated Papers
CRPPA exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy.
Luo J et al.
Pediatric Investigation, 2026
A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in the CRPPA gene: a case report and literature review.
Zhang S et al.
Translational Pediatrics, 2025
A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family.
Shi Y et al.
Genes & Genomics, 2023
Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report.
Yang M et al.
World Journal of Clinical Cases, 2021
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Song D et al.
Clinical Genetics, 2021
Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration.
Yang H et al.
Frontiers in Pediatrics, 2021
A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.
Song D et al.
Clinical Genetics, 2020
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