Localization of the gene for branchiootorenal syndrome to chromosome 8q

Richard J.H. Smith, Kevin B. Coppage, Jennifer K.B. Ankerstjerne, Dwayne T. Capper, Shrawan Kumar, Judy Kenyon, Sue Tinley, Kimberly Comeau, William J. Kimberling

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51 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)841-844
Number of pages4
JournalGenomics
Volume14
Issue number4
DOIs
Publication statusPublished - Dec 1992

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ASJC Scopus subject areas

  • Genetics

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Smith, R. J. H., Coppage, K. B., Ankerstjerne, J. K. B., Capper, D. T., Kumar, S., Kenyon, J., ... Kimberling, W. J. (1992). Localization of the gene for branchiootorenal syndrome to chromosome 8q. Genomics, 14(4), 841-844. https://doi.org/10.1016/S0888-7543(05)80102-8