| Title : Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia - Liampas_2024_Mol.Biol.Rep_51_590 |
| Author(s) : Liampas A , Nicolaou P , Votsi C , Georghiou A , Christodoulou K , Tanteles GA , Pantzaris M |
| Ref : Mol Biol Rep , 51 :590 , 2024 |
| Abstract : |
| PubMedSearch : Liampas_2024_Mol.Biol.Rep_51_590 |
| PubMedID: 38683245 |