A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report
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DOI: 10.3389/fgene.2019.01383
Abstract: Rationale Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The clinical manifestations of this disease are severe skeletal deformities, airway obstruction, cardiomyopathy, and neurologic… read more here.
Keywords: ids gene; genetics; hunter syndrome; new mutation ... See more keywords