Frontiers in Genetics 2019
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.
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الكلمات الدالة
نبذة مختصرة
Outcomes
The patient carries a new mutation (c.879-1210_1007-218del) in hemizygosis in the IDS gene, which was defined as pathogenic according to the 2015 American College of Medical Genetics and Genomics-Association for Molecular Pathology guidelines and as responsible for the mucopolysaccharidosis type II phenotype in the patient.