ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants

ABSTRACT Background This study characterizes the clinical and genetic features of ABCA4‐associated inherited retinal diseases (IRDs) in eight unrelated probands from the three provinces of Northeast China. All patients harbored biallelic pathogenic ABCA4 variants, with detailed variant profiles prov...

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Principais autores:	Nian Li, Linlin Su, Yue Ren, Ye Liu, Jiayuan Ge, Henan Sun, Zhuoshi Wang
Format:	Artigo
Jezik:	Inglês
Izdano:	Wiley 2026-07-01
Serija:	Molecular Genetics & Genomic Medicine
Teme:	ABCA4 early‐onset severe retinal dystrophy genotype–phenotype correlation inherited retinal diseases Stargardt disease
Online dostop:	https://doi.org/10.1002/mgg3.70229
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