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Feng-Yang Wang

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Case report Open access Sep 2026

Genomic Profiling of Anophthalmia/Microphthalmia‐Associated CNVs Reveals Complex Genotype–Phenotype Correlations and Incomplete Penetrance

ABSTRACT Background Anophthalmia/microphthalmia (A/M) is a severe congenital ocular malformation characterized by the complete absence or small size of the eye bulb. Interpreting copy number variations (CNVs) in A/M is challenged by variable genotype–phenotype correlations and reduced penetrance. This study investigate...

Dong Wu, Meng-Ting Zhang, Qian Zhang et al. · 0 citations

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