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
Fetal and neonatal outcomes of posterior fossa anomalies: a retrospective cohort study.
Alsehli H et al.
Scientific Reports, 2024
Molecular autopsy by proxy in preconception counseling.
Ali Alghamdi M et al.
Clinical Genetics, 2021
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
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
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Cirak S et al.
Brain : a Journal of Neurology, 2013
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Roscioli T et al.
Nature Genetics, 2012
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