Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families

• Main Authors: Yu Su (Author), Xue Gao (Author), Sha-Sha Huang (Author), Jing-Ning Mao (Author), Bang-Qing Huang (Author), Jian-Dong Zhao (Author), Dong-Yang Kang (Author), Xin Zhang (Author), Pu Dai (Author)
• Format: Book
• Published: BMC, 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Many X-linked non-syndromic hearing loss (HL) cases are caused by various mutations in the POU domain class 3 transcription factor 4 (POU3F4) gene. This study aimed to identify allelic variants of this gene in two Chinese families displaying X-linked inheritance deafness-2 (DFNX2...