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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...

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Detalles Bibliográficos
Autores principales: Arora, Navneet, Wasti, Kushal, Suri, Vikas, Malhotra, Pankaj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
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