Journal article
Localization of the gene for branchiootorenal syndrome to chromosome 8q
Genomics (San Diego, Calif.), Vol.14(4), pp.841-844
1992
DOI: 10.1016/S0888-7543(05)80102-8
PMID: 1478663
Abstract
Branchiootorenal syndrome is an autosomal dominant disorder that affects an estimated 2% of profoundly deaf children. In addition to hearing impairment, it is characterized by a lop-ear deformity, preauricular pits, branchial cleft sinus tracts, and renal anomalies. The pathogenesis of the disease remains unknown; however, the defective gene has been localized to chromosome 8q by family linkage studies.
Details
- Title: Subtitle
- Localization of the gene for branchiootorenal syndrome to chromosome 8q
- Creators
- Richard J.H Smith - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USAKevin B Coppage - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USAJennifer K.B Ankerstjerne - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USADwayne T Capper - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USAShrawan Kumar - Boys Town National Research Hospital, Omaha, Nebraska, USAJudy Kenyon - Boys Town National Research Hospital, Omaha, Nebraska, USASue Tinley - Boys Town National Research Hospital, Omaha, Nebraska, USAKimberly Comeau - Boys Town National Research Hospital, Omaha, Nebraska, USAWilliam J Kimberling - Boys Town National Research Hospital, Omaha, Nebraska, USA
- Resource Type
- Journal article
- Publication Details
- Genomics (San Diego, Calif.), Vol.14(4), pp.841-844
- DOI
- 10.1016/S0888-7543(05)80102-8
- PMID
- 1478663
- NLM abbreviation
- Genomics
- ISSN
- 0888-7543
- eISSN
- 1089-8646
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 1992
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Pathology; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006301802771
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