@article{f675a423008c42f0bb85c9ecef3b37f4,
title = "Unveiling hidden genetic complexity: Coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy",
keywords = "Humans, Retinal Dystrophies/genetics, Mutation/genetics, Eye Proteins/genetics, Female, Male, Genetic Predisposition to Disease",
author = "Siying Lin and Elena Schiff and Gavin Arno and Mahroo, {Omar A} and Webster, {Andrew R}",
year = "2024",
month = nov,
doi = "10.1002/ajmg.a.63805",
language = "English",
volume = "194",
pages = "e63805",
journal = "American Journal of Medical Genetics. Part A",
issn = "1552-4825",
publisher = "John Wiley & Sons Ltd",
number = "11",
}