Article
The risks of RELN polymorphisms and its expression in the development of otosclerosis.
PloS one - 1 Jan 2022
Priyadarshi Saurabh, Hansdah Kirtal, Singh Neha, Bouzid Amal, Ray Chinmay Sundar, Panda Khirod Chandra, Biswal Narayan Chandra, Desai Ashim, Choudhury Jyotish Chandra, Tekari Adel, Masmoudi Saber, Ramchander Puppala Venkat
Abstract excerpt
Otosclerosis (OTSC) is the primary form of conductive hearing loss characterized by abnormal bone remodelling within the otic capsule of the human middle ear. A genetic association of the RELN SNP rs3914132 with OTSC has been identified in European population. Previously, we showed a trend towards association of this polymorphism with OTSC and identified a rare variant rs74503667 in a familial case. Here, we...
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