Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy

One percent of patients with a Huntington's disease (HD) phenotype do not have the Huntington (HTT) gene mutation. These are known as HD phenocopies. Their diagnosis is still a challenge. Our objective is to provide a diagnostic approach to HD phenocopies based on medical expertise and a review...

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Detalles Bibliográficos
Autores principales: Nguyen, Quang Tuan Rémy, Ortigoza Escobar, Juan Dario, Burgunder, Jean-Marc, Mariotti, Caterina, Saft, Carsten, Hjermind, Lena Elisabeth, Youssov, Katia, Landwehrmeyer, G. Bernhard, Bachoud-Lévi, Anne-Catherine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8866848/
https://www.ncbi.nlm.nih.gov/pubmed/35222250
http://dx.doi.org/10.3389/fneur.2022.817753

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