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

Research output: Contribution to journalArticle

51 Citations (Scopus)

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
StatePublished - Dec 1992

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Hearing Loss
Ear
Chromosomes
Kidney
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

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

Localization of the gene for branchiootorenal syndrome to chromosome 8q. / Smith, Richard J.H.; Coppage, Kevin B.; Ankerstjerne, Jennifer K.B.; Capper, Dwayne T.; Kumar, Shrawan; Kenyon, Judy; Tinley, Sue; Comeau, Kimberly; Kimberling, William J.

In: Genomics, Vol. 14, No. 4, 12.1992, p. 841-844.

Research output: Contribution to journalArticle

Smith, RJH, Coppage, KB, Ankerstjerne, JKB, Capper, DT, Kumar, S, Kenyon, J, Tinley, S, Comeau, K & Kimberling, WJ 1992, 'Localization of the gene for branchiootorenal syndrome to chromosome 8q', Genomics, vol. 14, no. 4, pp. 841-844. https://doi.org/10.1016/S0888-7543(05)80102-8
Smith RJH, Coppage KB, Ankerstjerne JKB, Capper DT, Kumar S, Kenyon J et al. Localization of the gene for branchiootorenal syndrome to chromosome 8q. Genomics. 1992 Dec;14(4):841-844. https://doi.org/10.1016/S0888-7543(05)80102-8
Smith, Richard J.H. ; Coppage, Kevin B. ; Ankerstjerne, Jennifer K.B. ; Capper, Dwayne T. ; Kumar, Shrawan ; Kenyon, Judy ; Tinley, Sue ; Comeau, Kimberly ; Kimberling, William J. / Localization of the gene for branchiootorenal syndrome to chromosome 8q. In: Genomics. 1992 ; Vol. 14, No. 4. pp. 841-844.
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