Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

• Автори: Jing Zhang (Автор), Jing Guan (Автор), Hongyang Wang (Автор), Linwei Yin (Автор), Dayong Wang (Автор), Lidong Zhao (Автор), Huifang Zhou (Автор), Qiuju Wang (Автор)
• Формат: Книга
• Опубліковано: BMC, 2019-04-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

Abstract Background MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype, except for MYO15A variants in exon 2, which cause a milder auditory phenotype,...