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“Genotype-first” approaches on a curious case of idiopathic progressive cognitive decline

BACKGROUND: In developing countries, many cases with rare neurological diseases remain undiagnosed due to limited diagnostic experience. We encountered a case in China where two siblings both began to develop idiopathic progressive cognitive decline starting from age six, and were suspected to have...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Shi, Lingling, Li, Bingxiao, Huang, Yonglan, Ling, Xueying, Liu, Tianyun, Lyon, Gholson J, Xu, Anding, Wang, Kai
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4267425/
https://ncbi.nlm.nih.gov/pubmed/25466957
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-014-0066-9
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