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

Yang-wei Zhang, Haibo Qu, Ning Long, Xiangyou Leng, Yunqiang Liu, Yuan Yang

2020Molecular Genetics and Genomics12 citationsDOI

Topics & Concepts

Joubert syndromeBiologyMissense mutationGeneticsPhenotypeGeneGenetic and Kidney Cyst DiseasesFetal and Pediatric Neurological DisordersHedgehog Signaling Pathway Studies
A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation | Litcius