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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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Publicat a:Genes (Basel)
Autors principals: Birtel, Johannes, Gliem, Martin, Hess, Kristina, Birtel, Theresa H., Holz, Frank G., Zechner, Ulrich, Bolz, Hanno J., Herrmann, Philipp
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7073860/
https://ncbi.nlm.nih.gov/pubmed/32013026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11020137
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