Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients

We genetically characterized 22 Swiss patients who had been diagnosed with Stargardt disease after clinical examination. We identified in 11 patients (50%) pathogenic bi-allelic ABCA4 variants, c.1760+2T>C and c.4496T>C being novel. The dominantly inherited pathogenic ELOVL4 c.810C>G p.(Tyr...

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Detalles Bibliográficos
Autores principales: Buhler, Virginie M.M., Berger, Lieselotte, Schaller, André, Zinkernagel, Martin S., Wolf, Sebastian, Escher, Pascal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8229718/
https://www.ncbi.nlm.nih.gov/pubmed/34073554
http://dx.doi.org/10.3390/genes12060812

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8229718/
https://www.ncbi.nlm.nih.gov/pubmed/34073554
http://dx.doi.org/10.3390/genes12060812

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