Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss

• मुख्य लेखकों: Qiang Du (लेखक), Qin Sun (लेखक), Xiaodong Gu (लेखक), Jinchao Wang (लेखक), Weitao Li (लेखक), Luo Guo (लेखक), Huawei Li (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2022-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Hearing loss is the most common sensory neural disorder in humans, and according to a WHO estimation, 5.5% (466 million) of people worldwide have disabling hearing loss. In this study, a Chinese family with prelingual sensorineural hearing loss was investigated. The affected individuals sho...