Article
Genotype-phenotype relationship in RDH12 retinopathy: a perspective from a pediatric age group.
Ophthalmic genetics - 1 Jun 2025
Bacci Giacomo Maria, Fortunato Pina, Cestaro Silvia, Tiberi Lucia, Dirupo Elia, Artuso Rosangela, Palazzo Viviana, D'Esposito Fabiana, Gagliano Caterina, Marziali Elisa, Sodi Andrea, Passerini Ilaria, Pelo Elisabetta, Bargiacchi Sara, Caputo Roberto
Abstract excerpt
INTRODUCTION: Monocentric retrospective case series to describe clinical and molecular peculiarities in a series of pediatric patients in attempting a possible genotype-phenotype correlation. METHODS: We included 13 pediatric patients from 7 unrelated families (ages 1-18) with biallelic pathogenic and likely pathogenic variants in RDH12 gene. For all our patients segregation analyses were performed in their...
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