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New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder

Rabia Faridi, Alessandro Rea, Cristina Fenollar‐Ferrer, Raymond T. O’Keefe, Shoujun Gu, Zunaira Munir, Asma Ali Khan, Sheikh Riazuddin, Michael Hoa, Sadaf Naz, William G. Newman, Thomas B. Friedman

2021Human Genetics51 citationsDOIOpen Access PDF

Topics & Concepts

BiologyGeneticsDiseaseCandidate genePhenotypeHuman geneticsGenetic heterogeneityGeneEtiologyHearing lossPathologyAudiologyMedicineMitochondrial Function and PathologyRNA modifications and cancerRNA regulation and disease