A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

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 de...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Front Genet
Päätekijät: Gomes, Caio Perez, Marins, Maryana Mara, Motta, Fabiana Louise, Kyosen, Sandra Obikawa, Curiati, Marco Antonio, D’Almeida, Vânia, Martins, Ana Maria, Pesquero, João Bosco
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2020
Aiheet:
Genetics
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7093562/
https://ncbi.nlm.nih.gov/pubmed/32256517
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.01383
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