Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort

Conclusion This study presents the first insight of genetic screening for patients with TBS in a large HL cohort. We broadened the phenotypic-genotypic spectrum of TBS and our results supported an underestimated prevalence of TBS. Due to the rarity and phenotypic heterogeneity of rare diseases, broader spectrum molecular tests, especially whole genome sequencing, can improve the situation of underdiagnosis and provide effective recommendations for clinical management.

http://jmg.bmj.com/cgi/content/short/61/5/459?rss=1

Source: Journal of Medical Genetics - April 19, 2024 Category: Genetics & Stem Cells Authors: Yan, X., Wang, J., Yang, W., Li, L., Shen, T., Geng, J., Zhang, Q., Zhong, M., Xiong, W., Bu, F., Lu, Y., Zhao, Y., Cheng, J., Yuan, H. Tags: Open access Diagnostics Source Type: research