@article{7b2ba0d08c304e47ae8bb08b723e8b7c,
title = "Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG",
keywords = "early-onset inherited retinal dystrophy, Leber congenital amaurosis, nystagmus, tubby-like protein 1, TULP1, LEBER CONGENITAL AMAUROSIS, RECESSIVE RETINITIS-PIGMENTOSA, TUBBY-LIKE PROTEIN-1, INDIAN FAMILIES, MUTATIONS, PHENOTYPE, 3125 Otorhinolaryngology, ophthalmology",
author = "Anna Majander and Eeva-Marja Sankila and Aura Falck and Vasara, {Laura Kristiina} and Sanna Seitsonen and Maarit Kulmala and Anna-Kaisa Haavisto and Kristiina Avela and Turunen, {Joni A.}",
year = "2023",
month = mar,
doi = "10.1111/aos.15252",
language = "English",
volume = "101",
pages = "215--221",
journal = "Acta Ophthalmologica",
issn = "1755-375X",
publisher = "John Wiley and Sons Inc.",
number = "2",
}