title: Localization of the gene for branchiootorenal syndrome to chromosome 8q.
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.
authors: Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City 52242.
authors: R J
authors: RJ
authors: Smith
authors: K B
authors: KB
authors: Coppage
authors: J K
authors: JK
authors: Ankerstjerne
authors: D T
authors: DT
authors: Capper
authors: S
authors: S
authors: Kumar
authors: J
authors: J
authors: Kenyon
authors: S
authors: S
authors: Tinley
authors: K
authors: K
authors: Comeau
authors: W J
authors: WJ
authors: Kimberling
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D004276:DNA, Satellite; D004423:Ear / Q000002:abnormalities*; D005260:Female; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D013577:Syndrome
chemical_list: D004276:DNA, Satellite