Elsevier

Genomics

Volume 14, Issue 4, December 1992, Pages 841-844
Genomics

Localization of the gene for branchiootorenal syndrome to chromosome 8q

https://doi.org/10.1016/S0888-7543(05)80102-8Get rights and content

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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