Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.

Autor: Majander A; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Sankila EM; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Falck A; Department of Ophthalmology, PEDEGO Research Unit and Medical Research Center, University of Oulu and Oulu University Hospital, Oulu, Finland., Vasara LK; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Seitsonen S; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kulmala M; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Haavisto AK; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Avela K; Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Turunen JA; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Eye Genetics Group, Folkhälsan Research Center, Helsinki, Finland.

Publikováno v: Acta ophthalmologica [Acta Ophthalmol] 2023 Mar; Vol. 101 (2), pp. 215-221. Date of Electronic Publication: 2022 Sep 21.