Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case Report

Introduction: C19ORF44 has recently been identified as a gene associated with autosomal recessive inherited retinal disease (IRD). The function of the gene remains poorly understood, and a previously reported case with identical primary genotype demonstrated a Stargardt-like macular dystr...

Popoln opis

Bibliografske podrobnosti

Principais autores:	Lucas Yan Bin Ng, Mathieu Quinodoz, Tien-En Tan, Rachael W.C. Tang, Carlo Rivolta, Beau J. Fenner
Format:	Artigo
Jezik:	Inglês
Izdano:	Karger Publishers 2026-05-01
Serija:	Case Reports in Ophthalmology
Online dostop:	https://karger.com/article/doi/10.1159/000552545
Oznake:	Označite Brez oznak, prvi označite!