A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome

• Asıl Yazarlar: Yan-gong Wang (Yazar), Shu-ping Sun (Yazar), Yi-ling Qiu (Yazar), Qing-he Xing (Yazar), Wei Lu (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2018-08-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background Branchio-oto-renal (BOR) syndrome is a dominant autosomal disorder characterized by phenotypes such as hearing loss, branchial fistulae, preauricular pits, and renal abnormalities. EYA1, the human homolog of the Drosophila "eye absent" gene on chromosome 8q13.3, is reco...