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Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

Fucosidosis is a neurodegenerative disorder which progresses inexorably. Clinical features include coarse facial features, growth retardation, recurrent upper respiratory infections, dysostosis multiplex, and angiokeratoma corporis diffusum. Fucosidosis is caused by mutations in the FUCA1 gene resul...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Stepien, Karolina M., Ciara, Elżbieta, Jezela-Stanek, Aleksandra
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7700486/
https://ncbi.nlm.nih.gov/pubmed/33266441
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11111383
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