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Article

Two novel mutations in the C-terminal region of centrosomal protein 290 (CEP290) result in classic Joubert syndrome.

Journal of child neurology - 1 May 2015

Wang Lixia, Yang Yun, Song Jieping, Mao Liangwei, Wei Xiaoming, Sun Yan, Yang Shuang, Mu Feng, Wang Hairong, Niu Yanfeng

Abstract excerpt

Joubert syndrome is a neurologic disorder with a pathognomonic "molar tooth sign" on brain imaging. The purpose of this study was to identify potential mutations in a Chinese patient with Joubert syndrome by targeted massively parallel sequencing. Taking advantage of high-throughput DNA sequencing technologies, 18 Joubert-causing genes of a Chinese patient with classic Joubert syndrome were sequenced at a time,...

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PMID: 24850569
DOI: 10.1177/0883073814535488

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Two novel mutations in the C-terminal region of centrosomal protein 290 (CEP290) result in classic Joubert syndrome.PMID 24850569Read ↗

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