Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report

RATIONALE: Pantothenate kinase-associated neurodegeneration (PKAN) represents an autosomal recessive hereditary disease. In this report, a PANK2 gene mutation in a Chinese child was identified, as well as detections of PKAN among his family members. Our findings exposed a world-wide novel compound h...

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Detalles Bibliográficos
Autores principales: Shi, Xulai, Zheng, Feixia, Ye, Xiuyun, Li, Xiucui, Zhao, Qianlei, Lin, Zhongdong, Hu, Ying, Wang, Jiwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
5300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908570/
https://www.ncbi.nlm.nih.gov/pubmed/29642163
http://dx.doi.org/10.1097/MD.0000000000010316

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