A novel non-sense variant in the ofd1 gene caused joubert syndrome

HIGHLIGHTS

• who: Joubert syndrome et al. from the Parc Taulu00ed Hospital Universitari, Spain Yale University, United States have published the article: A novel non-sense variant in the OFD1 gene caused Joubert syndrome, in the Journal: (JOURNAL)
• what: The authors report a non-consanguineous healthy Chinese couple with two male fetuses, both of whom were suspected to suffer from unexplained hypoplasia of the cerebellar vermis, enlarged posterior fossa and polydactyly detected by prenatal US.
• how: The results showed that OFD1 had biallelic gene_expression in all samples which was consistent with a previous study showing . . .
  

   

  

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