The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

The identification of pathogenic variants in monogenic diseases has been of interest to researchers and clinicians for several decades. However, for inherited diseases with extremely high genetic heterogeneity, such as hearing loss and retinal dystrophies, establishing a molecular diagnosis requires...

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Detalles Bibliográficos
Autores principales: de Bruijn, Suzanne E., Fadaie, Zeinab, Cremers, Frans P. M., Kremer, Hannie, Roosing, Susanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7998853/
https://www.ncbi.nlm.nih.gov/pubmed/33799353
http://dx.doi.org/10.3390/ijms22062943

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7998853/
https://www.ncbi.nlm.nih.gov/pubmed/33799353
http://dx.doi.org/10.3390/ijms22062943

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