Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies

Inherited retinal dystrophies (IRDs) are characterized by high clinical and genetic heterogeneity. A precise characterization is desirable for diagnosis and has impact on prognosis, patient counseling, and potential therapeutic options. Here, we demonstrate the effectiveness of the combination of in...

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Detalles Bibliográficos
Autores principales: Birtel, Johannes, Gliem, Martin, Hess, Kristina, Birtel, Theresa H., Holz, Frank G., Zechner, Ulrich, Bolz, Hanno J., Herrmann, Philipp
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073860/
https://www.ncbi.nlm.nih.gov/pubmed/32013026
http://dx.doi.org/10.3390/genes11020137

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