EYA1-related disorders: Two clinical cases and a literature review
Author:
Publisher
Elsevier BV
Subject
Otorhinolaryngology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference22 articles.
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2. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family;Abdelhak;Nat. Genet.,1997
3. A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans;Mosrati;Eur. J. Med. Genet.,2011
4. Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome;Wang;Laryngoscope,2012
5. A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred;Salam;Am. J. Hum. Genet.,2000
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