IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History-Reference-Cited by-同舟云学术

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IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History

Published:2024-08 Issue: Volume:264 Page:205-215
ISSN:0002-9394
Container-title:American Journal of Ophthalmology
language:en
Short-container-title:American Journal of Ophthalmology

Author:

SEN SAGNIK,FABOZZI LORENZO^ORCID,FUJINAMI KAORU^ORCID,FUJINAMI-YOKOKAWA YU^ORCID,WRIGHT GENEVIEVE A.,WEBSTER ANDREW^ORCID,MAHROO OMAR^ORCID,ROBSON ANTHONY G.^ORCID,GEORGIOU MICHALIS^ORCID,MICHAELIDES MICHEL

Funder

Wellcome Trust

Moorfields Eye Hospital NHS Foundation Trust

NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research

UCL Institute of Ophthalmology, University College London

Publisher

Elsevier BV

Reference39 articles.

1. Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions;Chung;J AAPOS,2009

2. Leber congenital amaurosis/early-onset severe retinal dystrophy overview;Kumaran,2018

3. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions;Kumaran;Br J Ophthalmol,2017

4. GUCY2D-associated Leber congenital amaurosis: a retrospective natural history study in preparation for trials of novel therapies;Bouzia;Am J Ophthalmol,2020

5. Nephronophthisis: disease mechanisms of a ciliopathy;Hildebrandt;J Am Soc Nephrol,2009

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