Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1

by Kan Wu, Zhumei Li, Yuhua Zhu, Xiaocheng Wang, Guohui Chen, Zhaohui Hou, Qiujing Zhang
Published 2021-06-01