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Article

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.

Genes - 18 Feb 2021

Perrault Isabelle, Hanein Sylvain, Gérard Xavier, Mounguengue Nelson, Bouyakoub Ryme, Zarhrate Mohammed, Fourrage Cécile, Jabot-Hanin Fabienne, Bocquet Béatrice, Meunier Isabelle, Zanlonghi Xavier, Kaplan Josseline, Rozet Jean-Michel

Abstract excerpt

Leber congenital amaurosis (LCA) encompasses the earliest and most severe retinal dystrophies and can occur as a non-syndromic or a syndromic disease. Molecular diagnosis in LCA is of particular importance in clinical decision-making and patient care since it can provide ocular and extraocular prognostics and identify patients eligible to develop gene-specific therapies. Routine high-throughput molecular testing...

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Identifiers

PMID: 33670832
DOI: 10.3390/genes12020287
PMCID: PMC7922592

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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