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Article

Novel CC2D2A compound heterozygous mutations cause Joubert syndrome.

Molecular medicine reports - 1 Jan 2017

Xiao Daimin, Lv Chunli, Zhang Zhimin, Wu Mingsong, Zheng Xiang, Yang Lei, Li Xueying, Wu Guan, Chen Jindong

Abstract excerpt

Joubert syndrome (JS) is an autosomal recessive disorder, which is characterized by hypotonia, ataxia, psychomotor delay, and variable occurrences of oculomotor apraxia and neonatal breathing abnormalities. JS is clinically and genetically heterogeneous. The present study investigated a typical JS family. The 'molar tooth sign' was observed in the proband through magnetic resonance imaging. Other symptoms of JS...

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PMID: 27959436
DOI: 10.3892/mmr.2016.6007

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

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