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Article

Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.

Acta ophthalmologica - 1 Jun 2021

Lang Elena, Koller Samuel, Atac David, Pfäffli Oliver A, Hanson James V M, Feil Silke, Bähr Luzy, Bahr Angela, Kottke Raimund, Joset Pascal, Fasler Katrin, Barthelmes Daniel, Steindl Katharina, Konrad Daniel, Wille David-Alexander, Berger Wolfgang, Gerth-Kahlert Christina

Abstract excerpt

PURPOSE: To (i) describe a series of patients with isolated or syndromic nanophthalmos with the underlying genetic causes, including novel pathogenic variants and their functional characterization and (ii) to study the association of retinal dystrophy in patients with MFRP variants, based on a detailed literature review of genotype-phenotype correlations. METHODS: Patients with nanophthalmos and available family...

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PMID: 32996714
DOI: 10.1111/aos.14615

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