Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia

CONCLUSIONS: This highlights the importance of considering rare inherited causes of visual loss, spinocerebellar ataxia, or/and HH in a neurology clinic and the significant role of genetic sequencing in the diagnostic process.PMID:38683245 | DOI:10.1007/s11033-024-09515-4

Source: Molecular Biology Reports - April 29, 2024 Category: Molecular Biology Authors: Andreas Liampas Paschalis Nicolaou Christina Votsi Anthi Georghiou Kyproula Christodoulou George A Tanteles Marios Pantzaris Source Type: research