✦ LIBER ✦

HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome

✍ Scribed by Amarilis Sanchez-Valle; Xueqing Wang; Lorraine Potocki; Zhilian Xia; Sung-Hae L. Kang; Mary E. Carlin; Donnice Michel; Patricia Williams; Gerardo Cabrera-Meza; Ellen K. Brundage; Anna L. Eifert; Pawel Stankiewicz; Sau Wai Cheung; Seema R. Lalani

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 197 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33686

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of three novel mutations

Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome

✍ Shrawan Kumar; William J. Kimberling; Michael D. Weston; Bradley G. Schaefer; Ma 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 301 KB 👁 2 views

The Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. Recent studies have shown that mutations in EYA1 are associated with BOR. However, the underlying molecular mechanisms by which mutation