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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Detalles Bibliográficos
Autores principales: Stepien, Karolina M., Ciara, Elżbieta, Jezela-Stanek, Aleksandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7700486/
https://www.ncbi.nlm.nih.gov/pubmed/33266441
http://dx.doi.org/10.3390/genes11111383

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7700486/
https://www.ncbi.nlm.nih.gov/pubmed/33266441
http://dx.doi.org/10.3390/genes11111383

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