Author

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

This study investigated the genetic etiology of A/M‐associated CNVs and found that genotype–phenotype correlations and reduced penetrance contribute to uncertainty in the interpretation of copy number variations in A/M.

Dong Wu, Meng-Ting Zhang, Qian Zhang et al. · Molecular Genetics & Genomic... · 0 citations