Autor: John Vissing
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A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy
European Journal of Human Genetics, Published online: 24 December 2025; doi:10.1038/s41431-025-01991-xA homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy