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Article

HERV‐mediated genomic rearrangement of <i>EYA1</i> in an individual with branchio‐oto‐renal syndrome

26 Oct 2010

Abstract excerpt

Branchio-oto-renal syndrome is characterized by branchial defects, hearing loss, preauricular pits, and renal anomalies. Mutations in EYA1 are the most common cause of branchio-oto-renal and branchio-otic syndromes. Large chromosomal aberrations of 8q13, including complex rearrangements occur in about 20% of these individuals. However, submicroscopic deletions and the molecular characterization of genomic...

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PMID: 20979191
DOI: 10.1002/ajmg.a.33686

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