Read + Share

Amedeo Smart

Independent Medical Education


Read + Share

Gebert J, Brunet T, Wagner M, Rath J, et al. A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism. Neuropediatrics 2024 Feb 12. doi: 10.1055/s-0044-1779274.
PMID: 38346691


Privacy Policy