Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population

Inherited retinal degenerations (IRDs) account for over one third of the underlying causes of blindness in the paediatric population. Patients with IRDs often experience long delays prior to reaching a definitive diagnosis. Children attending a tertiary care paediatric ophthalmology department with...

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Detalles Bibliográficos
Autores principales: Zhu, Julia, Stephenson, Kirk A. J., Dockery, Adrian, Turner, Jacqueline, O’Byrne, James J., Fitzsimon, Susan, Farrar, G. Jane, Flitcroft, D. Ian, Keegan, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9033125/
https://www.ncbi.nlm.nih.gov/pubmed/35456422
http://dx.doi.org/10.3390/genes13040615

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9033125/
https://www.ncbi.nlm.nih.gov/pubmed/35456422
http://dx.doi.org/10.3390/genes13040615

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