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Article

A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.

Molecular genetics and genomics : MGG - 1 Jan 2021

Zhang Yang-Wei, Qu Hai-Bo, Long Ning, Leng Xiang-You, Liu Yun-Qiang, Yang Yuan

Abstract excerpt

Joubert syndrome (JBTS), a rare genetic disorder resulted from primary cilium defects or basal-body dysfunction, is characterized by agenesis of cerebellar vermis and abnormal brain stem. Both genotypes and phenotypes of JBTS are highly heterogeneous. The identification of pathogenic gene variation is essential for making a definite diagnosis on JBTS. Here, we found that hypoplasia of cerebellar vermis occurred...

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PMID: 32944789
DOI: 10.1007/s00438-020-01726-1

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SHH

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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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