Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
Preprint in Research Square (January 2024)
The most recent citing publications are shown below. View all 20 publications that cite this research output on Dimensions.
Preprint in Research Square (January 2024)
Preprint in bioRxiv (August 2023)
Article in The Cerebellum (May 2023)