Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy

PURPOSE: To present the detailed retinal phenotype of patients with Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD) caused by sequence variants in four genes, either not (n = 1) or very rarely (n = 3) previously associated with the disease. METHODS: Retrospective case ser...

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Enregistré dans:
Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Georgiou, Michalis, Ali, Naser, Yang, Elizabeth, Grewal, Parampal S., Rotsos, Tryfon, Pontikos, Nikolas, Robson, Anthony G., Michaelides, Michel
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2021
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7953775/
https://ncbi.nlm.nih.gov/pubmed/33712029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01759-8
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