Identification of Novel USH2A Mutations in a Consanguineous Chinese Family With Usher Syndrome - Wang, Haolin; Wei, Bo; Guo, Jiaxin; Wu, Xiawei; Zou, Tongdan; Wang, Ting; Zhang, Tiantian; Gong, Bo; Hao, Jilong; Zhang, Houbin; Wang, Le (Human mutation, 2025)
Keywords: Acoustics; Blood vessels; Compliance; Consanguinity; Ears & hearing; East Asian People - genetics; Exome Sequencing; Extracellular Matrix Proteins - chemistry; Extracellular Matrix Proteins - genetics; Female; Genes; Genetic testing; Hearing loss; Humans; Male; Mutation; Pedigree; Phenotype; Photoreceptors; Proteins; USH2A protein; Usher Syndromes - diagnosis; Usher Syndromes - genetics; Usher's syndrome; United States--US; China