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Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract

Abstract Background Pediatric cataract is a clinically and genetically heterogeneous disease which is a significant cause of lifelong visual impairment and treatable blindness. Our study aims to investigate the genotype spectrum in a group of Chinese patients with pediatric cataract. Methods We enro...

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Principais autores: Jingyan Li, Yunji Leng, Shirui Han, Lulu Yan, Chaoxia Lu, Yang Luo, Xue Zhang, Lihua Cao
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2018-06-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Pediatric cataract
Next-generation sequencing
Variant
Nystagmus
Online adgang:http://link.springer.com/article/10.1186/s13023-018-0828-0
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