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Article

Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.

Clinical dysmorphology - 1 Jul 2017

Zhang Kaihui, Meng Chen, Ma Jing, Gao Min, Lv Yuqiang, Liu Yi, Gai Zhongtao

Abstract excerpt

Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain MRI. So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrome 10 (JBTS10). Six mutations in the OFD1 gene have been found to cause JBTS10. In this study, we identified a novel OFD1 mutation of c.2843_2844...

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PMID: 28505061
DOI: 10.1097/MCD.0000000000000183

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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