Publication
Early-Onset Retinopathy in Patients With Variants in
SLC6A6
Leading to Impaired Taurine Transport
Mukhtar Ullah, Atta Ur Rehman, Madhur Shetty, Michael D. Allen, Ehsan Ullah, Sabrina G. Signorini, Cyril Burin des Roziers, Rosalie M. Grijalva, Abdur Rashid, Asad Munir, Alessandra Pia Porretta, Enza Maria Valente, Aime R. Agather, Ioannis Dimopoulos, Robert B. Hufnagel, Edouard Malandain, Juliette Coursimault, Muhammad Ansar, Stylianos E. Antonarakis, Andrea Superti-Furga, Sanaullah Jan, Brian P. Brooks, Giacomo Calzetti, Bin Guan, Mathieu Quinodoz, L. Keith Henry, Carlo Rivolta
JAMA Ophthalmology, December 2025, American Medical Association (AMA)
DOI: 10.1001/jamaophthalmol.2025.4875