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Article

Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia.

European journal of medical genetics - 1 Jun 2021

Zhu Haiyan, Chen Wangyang, Ren He, Zhang Yunshan, Niu Yanyan, Wu Di, Jiang Lin

Abstract excerpt

BACKGROUD: Joubert syndrome is a rare neurodevelopmental disorder characterized by clinical and genetic heterogeneity. The characteristic molar tooth sign, which resulted from cerebellar vermis hypoplasia and midbrain anomalies, is expected to be the key diagnostic feature for this disease. However, it is not easy to make a definite diagnosis in prenatal only based on the imageology due to its clinical...

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Identifiers

PMID: 33794348
DOI: 10.1016/j.ejmg.2021.104212

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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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Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia.PMID 33794348Read ↗

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