Associated Papers
Pathogenic mechanisms and clinical insights into B3GALNT2-related alpha-dystroglycanopathies.
Fu X et al.
Journal of Neuromuscular Diseases, 2025
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.
Xiang J et al.
Orphanet Journal of Rare Diseases, 2024
39252126 (PubMed )
Supplement: 13023_2024_3340_MOESM3_ESM.xlsx › Sheet1
Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report.
Ling D et al.
Clinical Case Reports, 2024
[Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene].
Zeng L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Expanding the Phenotype of B3GALNT2-Related Disorders.
D'haenens E et al.
Genes, 2022
35456500 (PubMed )
Supplement: genes-13-00694-s001.zip › genes-1682179-supplementary.xlsx › Table_S1
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
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Song D et al.
Clinical Genetics, 2021
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