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Article

"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline.

BMC medical genomics - 3 Dec 2014

Shi Lingling, Li Bingxiao, Huang Yonglan, Ling Xueying, Liu Tianyun, Lyon Gholson J, Xu Anding, Wang Kai

Abstract excerpt

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 an undiagnosed neurological disease. METHODS: Initial clinical assessments included review of medical history,...

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Identifiers

PMID: 25466957
DOI: 10.1186/s12920-014-0066-9
PMCID: PMC4267425

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NAGLU

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