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Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation

Mendelian DisorderGenetic DisorderHeterozygous Stop MutationGeneticsIduronate-2-sulfatase GenePathologyMucopolysaccharidosis Type IiMolecular GeneticsMedicineLysosomal Storage DiseaseMutagenesis