Associated Papers
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
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.
Alby C et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2016
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
Stevens E et al.
American Journal of Human Genetics, 2013
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
Stevens E et al.
Plos One, 2013
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