A novel non-sense variant in the OFD1 gene caused Joubert syndrome
Conclusion: The genetic variation spectrum of JBS10 caused by OFD1 was broadened. The novel variants further deepened our insight into the molecular mechanism of the disease.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
More News: Brain | Genetics | Joubert Syndrome | Liver | Neurology | Urology & Nephrology | Vitamin A