title: Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree.
abstract: A five-generation family with the branchio-oto-renal (BOR) syndrome is reported demonstrating the great variability of this syndrome. Symptoms of the branchio-oto, branchio-oto-ureteral, and BOR syndromes are seen in different members of this family, suggesting that these are not real entities, but variants of the BOR syndrome.
authors.affiliation: Institut für Humangenetik, Frankfurt/Main, Germany.
authors.forename: R
authors.initials: R
authors.lastname: König
authors.forename: S
authors.initials: S
authors.lastname: Fuchs
authors.forename: C
authors.initials: C
authors.lastname: Dukiet
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001934:Branchial Region / Q000002:abnormalities*; D004423:Ear / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome