Associated Papers
Pathogenic mechanisms and clinical insights into B3GALNT2-related alpha-dystroglycanopathies.
Fu X et al.
Journal of Neuromuscular Diseases, 2025
Expanding the Phenotype of B3GALNT2-Related Disorders.
D'haenens E et al.
Genes, 2022
Congenital muscular dystrophy caused by beta1,3-N-acetylgalactosaminyltransferase 2 gene mutation: Two case reports.
Wu WJ et al.
World Journal of Clinical Cases, 2022
Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients.
Chen XY et al.
Chinese Medical Journal, 2020
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
Maroofian R et al.
Genome Medicine, 2017
Select a paper to view details