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Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration: A case report and review of Chinese cases

RATIONALE: Pantothenate kinase-associated neurodegeneration (PKAN), also called Hallervorden–Spatz Syndrome (HSS), is a rare neurodegeneration with brain iron accumulation from pantothenate kinase 2 gene (PANK2) mutation characterized as extrapyramidal symptoms. However, few studies involving PKAN p...

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Detalles Bibliográficos
Autores principales: Zhang, Yingying, Zhou, Dong, Yang, Tianhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358370/
https://www.ncbi.nlm.nih.gov/pubmed/30681573
http://dx.doi.org/10.1097/MD.0000000000014122