Auditory Neuropathy Caused by a Structural Variation in the

• Tác giả: Akihiro Katada, Takumi Kumai, Hideaki Moteki, Shin-Ya Nishio, Shin-Ichi Usami
• Ngôn ngữ: eng
• Thông tin xuất bản: Switzerland : Genes , 2025
• Bộ sưu tập: NCBI
• ID: 732813

Tóm tắt

BACKGROUND/OBJECTIVES: The METHODS: We identified a copy gain variant in the RESULTS: The four-year-old male carried a duplication of chr2: 26,477,852 to 26,483,106 (a 5254-base duplication including exon 14 to exon 18 of the CONCLUSIONS: This is the first report of an auditory neuropathy patient with a large duplication variant in the