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Article

Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy.

Scientific reports - 23 May 2016

Chen Hui, Zhou Xueya, Wang Jing, Wang Xi, Liu Liyang, Wu Shinan, Li Tengyan, Chen Si, Yang Jingwen, Sham Pak Chung, Zhu Guangming, Zhang Xuegong, Wang Binbin

Abstract excerpt

Inherited neuropathies show considerable heterogeneity in clinical manifestations and genetic etiologies, and are therefore often difficult to diagnose. Whole-exome sequencing (WES) has been widely adopted to make definite diagnosis of unclear conditions, with proven efficacy in optimizing patients' management. In this study, a large Chinese kindred segregating autosomal dominant polyneuropathy with incomplete...

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PMID: 27212199
DOI: 10.1038/srep26362
PMCID: PMC4876459

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