Sun, M; Kaminsky, CK; Deppe, P; Ilse, MB; Vaz, FM; Plecko, B; Lübke, T; Randolph, LM.
A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis.
Genes Dis. 2024; 11(3): 101025
Doi: 10.1016/j.gendis.2023.06.003
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