Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Karali M, García-García G, Kaminska K, AlTalbishi A, Cancellieri F, Testa F, Barillari MR, Panagiotou ES, Psillas G, Vaclavik V, Tran VH, Janeschitz-Kriegl L, Scholl HP, Salameh M, Barberán-Martínez P, Rodríguez-Muñoz A, Armengot M, Scarpato M, Zeuli R, Quinodoz M, Simonelli F, Rivolta C, Banfi S, Millán JM.
Karali M, et al. Among authors: tran vh.
Eur J Hum Genet. 2024 Dec 13. doi: 10.1038/s41431-024-01768-8. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 39672920