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Evaluation of the Genetic Association and mRNA Expression of the COL1A1, BMP2, and BMP4 Genes in the Development of Otosclerosis.

Genetic testing and molecular biomarkers - 1 Jun 2020

Hansdah Kirtal, Singh Neha, Bouzid Amal, Priyadarshi Saurabh, Ray Chinmay Sundar, Desai Ashim, Panda Khirod Chandra, Choudhury Jyotish Chandra, Biswal Narayan Chandra, Tekari Adel, Masmoudi Saber, Ramchander Puppala Venkat

Abstract excerpt

Background: Otosclerosis (OTSC) is a genetically heterogeneous disorder, characterized by abnormal bone growth in the middle ear, affecting the stapes bone. Previous studies have shown that single nucleotide polymorphisms (SNPs) of the COL1A1, BMP2, and BMP4 genes are linked to susceptibility of OTSC, musculoskeletal degenerative diseases, and bone remodeling. Aims: To evaluate the genetic association and...

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PMID: 32379989
DOI: 10.1089/gtmb.2019.0235

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