A Novel Splicing Mutation in a Chinese Family With Branchio-Oto Syndrome: A Functional Analysis and Reproductive Intervention

Objectives Branchio-oto syndrome (BOS) is an autosomal dominant disorder characterized by multiple system anomalies, typically sparing the kidneys. BOS exhibits considerable clinical heterogeneity and ethnic variability; most studies have been conducted in European populations rather than in Asian p...

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ग्रंथसूची विवरण

मुख्य लेखकों:	Anhai Chen, Lu Jiang, Zequn Nie, Jian Song, Chufeng He, Lingyun Mei, Yalan Liu
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	Korean Society of Otorhinolaryngology-Head and Neck Surgery 2025-11-01
श्रृंखला:	Clinical and Experimental Otorhinolaryngology
विषय:	branchio-oto syndrome minigene hearing loss preimplantation genetic testing
ऑनलाइन पहुंच:	http://www.e-ceo.org/upload/pdf/ceo-2024-00304.pdf
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