Associated Papers
Pathogenic mechanisms and clinical insights into B3GALNT2-related alpha-dystroglycanopathies.
Fu X et al.
Journal of Neuromuscular Diseases, 2025
Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report.
Ling D et al.
Clinical Case Reports, 2024
Diagnostic yield with exome sequencing in prenatal severe bilateral ventriculomegaly: a systematic review and meta-analysis.
Mustafa HJ et al.
American Journal of Obstetrics & Gynecology Mfm, 2023
Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.
Wang P et al.
The Journal of Gene Medicine, 2022
Select a paper to view details