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Article

A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy.

BMC ophthalmology - 23 Jul 2024

Serra Rita, Rallo Vincenzo, Steri Maristella, Olla Stefania, Piras Maria Grazia, Marongiu Michele, Gorospe Myriam, Schlessinger David, Pinna Antonio, Fiorillo Edoardo, Cucca Francesco, Angius Andrea

Abstract excerpt

BACKGROUND: Usher syndrome (USH) encompasses a group of disorders characterized by congenital sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP). We described the clinical findings, natural history, and molecular analyses of USH patients identified during a large-scale screening to identify quantitative traits related to ocular disorders in the SardiNIA project cohort. METHODS: We identified 3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39044131
DOI: 10.1186/s12886-024-03578-4
PMCID: PMC11265335

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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