Journal article
Branchio-oto-renal syndrome
Journal of communication disorders, Vol.31(5), pp.411-421
1998
DOI: 10.1016/S0021-9924(98)00013-6
PMID: 9777487
Abstract
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder with branchial, otologic, and renal manifestations. The branchial manifestations usually are inconsequential, however the hearing impairment and renal malformations can be significant. The disease is caused by mutations in the EYA1 gene.
Details
- Title: Subtitle
- Branchio-oto-renal syndrome
- Creators
- Richard J.h Smith - Molecular Otolaryngology Research Labs, Department of Otolaryngology, University of Iowa, Iowa City, Iowa USACharles Schwartz - Center for Molecular Studies, J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina USA
- Resource Type
- Journal article
- Publication Details
- Journal of communication disorders, Vol.31(5), pp.411-421
- DOI
- 10.1016/S0021-9924(98)00013-6
- PMID
- 9777487
- NLM abbreviation
- J Commun Disord
- ISSN
- 0021-9924
- eISSN
- 1873-7994
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 1998
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006313002771
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