Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms

Abstract Objective Branchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including hearing loss (sensorineural, conductive, or mixed), structural abnormalities affecting the outer, middle, and inner ear, branchial fistulas or...

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Asıl Yazarlar: Hui Zhang (Yazar), Jian Gao (Yazar), Hanjun Wang (Yazar), Mengli Liu (Yazar), Shuangshuang Lu (Yazar), Hongen Xu (Yazar), Wenxue Tang (Yazar), Guoxi Zheng (Yazar)
Materyal Türü: Kitap
Baskı/Yayın Bilgisi: BMC, 2024-04-01T00:00:00Z.
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3rd Floor Main Library

Detaylı Erişim Bilgileri 3rd Floor Main Library
Yer Numarası: A1234.567
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