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

Abstract excerpt

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 provided in Table 2. METHODS: Eight unrelated Chinese pedigrees (31 individuals, including 8 probands and 23 family members)...

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