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ArticleBMC ophthalmology2026

Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy.

Liang Wang et al.PubMed ↗Full text ↗Publisher ↗

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Full record →Abstract, authors, funding and every citing paper · PMID 41703510