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“Face of a Giant Panda” and “Beating Wings” in a Young Male
Mutations in the gene coding for ATPase copper transporting beta polypeptide (ATP7B) cause Wilson's disease, located on chromosome 13. It has mainly hepatic and neurological presentations. Movement disorders are a characteristic finding in Wilson's disease, and “wing-beating tremors” are c...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8941676/ https://www.ncbi.nlm.nih.gov/pubmed/35371680 http://dx.doi.org/10.7759/cureus.22429 |