Article
Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing.
Bioscience reports - 25 Jun 2021
Jiang Yi, Wu Lihua, Huang Shasha, Li Pidong, Gao Bo, Yuan Yongyi, Zhang Siwen, Yu Guoliang, Gao Yong, Wu Hao, Dai Pu
Abstract excerpt
X-linked deafness-2 (DFNX2) is cochlear incomplete partition type III (IP-III), one of inner ear malformations characterized by an abnormally wide opening in the bone separating the basal turn of the cochlea from the internal auditory canal, fixation of the stapes and cerebrospinal fluid (CSF) gusher upon stapedectomy or cochleostomy. The causative gene of DFNX2 was POU3F4. To investigate the genetic causes of...
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