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
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
Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia.
Chen J et al.
Frontiers in Neurology, 2022
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