Publications by authors named "Chen-Qi Luo"
Int J Ophthalmol
July 2020
Article Synopsis
- The study aimed to identify a new gene mutation related to Waardenburg syndrome (WS), an inherited disorder causing hearing loss and pigmentation differences in the skin, hair, and eyes.
- Genetic analysis of a Chinese family using whole-exome and Sanger sequencing revealed a novel mutation (c.638A>G) linked to WS type I characteristics, including significant hearing loss and distinct eye color.
- This discovery adds to the genetic diversity associated with WS and highlights the necessity of recognizing ocular symptoms in all patients with the condition.
