Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic <i>RPGRIP1</i> Pathologic Variant in the French Leber Congenital Amaurosis Cohort

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic <i>RPGRIP1</i> Pathologic Variant in the French Leber Congenital Amaurosis Cohort

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 progn...

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Bibliographic Details
Main Authors: Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nelson Mounguengue, Ryme Bouyakoub, Mohammed Zarhrate, Cécile Fourrage, Fabienne Jabot-Hanin, Béatrice Bocquet, Isabelle Meunier, Xavier Zanlonghi, Josseline Kaplan, Jean-Michel Rozet
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Genes
Subjects:
Leber congenital amaurosis
<i>RPGRIP1</i>
deep intronic variant
oligotherapy
Online Access:https://www.mdpi.com/2073-4425/12/2/287

Internet

https://www.mdpi.com/2073-4425/12/2/287

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