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

Majander, A; Sankila, EM; Falck, A; Vasara, LK; Seitsonen, S; Kulmala, M; Haavisto, AK; Avela, K; Turunen, JA

Majander, A (通讯作者),Helsinki Univ Hosp, Dept Ophthalmol, POB 220, Helsinki 00029, Finland.;Majander, A (通讯作者),Univ Helsinki, POB 220, Helsinki 00029, Finland.

ACTA OPHTHALMOLOGICA, 2023; 101 (2): 215

Abstract

Purpose To report clinical features and potential disease markers of inherited retinal dystrophy (IRD) caused by the biallelic c.148delG variant in th......

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