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. 1992 Dec;14(4):841-4.
doi: 10.1016/s0888-7543(05)80102-8.

Localization of the gene for branchiootorenal syndrome to chromosome 8q

R J Smith  1 , K B Coppage, J K Ankerstjerne, D T Capper, S Kumar, J Kenyon, S Tinley, K Comeau, W J Kimberling
Affiliations

Localization of the gene for branchiootorenal syndrome to chromosome 8q

R J Smith et al. Genomics. 1992 Dec.

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.

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