Article

A Novel Copy Number Variation in PRPF31 Causes Dominant Rod-Cone Dystrophy By Haploinsufficiency

2024-04-19

Abstract excerpt

<title>Abstract</title> <p>Background and Objectives: Rod-cone dystrophy (RCD), also known as Retinitis Pigmentosa, is the most common group of retinal dystrophies, affecting around 1:4,000 individuals worldwide. Herein, our objective was to identify the genetic cause of RCD in two Lebanese families with distinct inheritance patterns and explore the potential role of <italic>PRPF31</italic> haploinsufficiency. M...

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Literature Corpus work: f8f7b563-85e9-5d91-93d4-07f74ab264d9
DOI: 10.21203/rs.3.rs-4216251/v1

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