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