Genetic and phenotypic heterogeneity in PNPT1, MYO15A, PTPRQ and SLC12A2 variants detected among hearing impaired assortative mating families in Southern India
Paridhy Vanniya Subramanyam, Jayasankaran Chandru, Jeffrey Justin Margret, Tom Rabinowitz, Zippora Brownstein, Mathuravalli Krishnamoorthy, Karen B. Avraham, Le Cheng, Noam Shomron, C. R. Srikumari Srisailapathy
The paper identifies six variants in four genes associated with hearing loss in four South Indian families, highlighting genetic and phenotypic heterogeneity.
Annals of Human Genetics · Aug 9, 2021Peer-reviewedGenetics