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Article

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.

American journal of medical genetics - 1 Jun 1994

Ni L, Wagner M J, Kimberling W J, Pembrey M E, Grundfast K M, Kumar S, Daiger S P, Wells D E, Johnson K, Smith R J

Abstract excerpt

Branchiootorenal (BOR) syndrome is a common autosomal dominant form of hearing impairment previously mapped to 8q. This report refines the localization of the BOR syndrome gene by haplotype analysis to the interval flanked by markers D8S553 and D8S286. By multipoint linkage analysis, the disease locus most likely is flanked by markers D8S530 and D8S279.

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Identifiers

PMID: 8092199
DOI: 10.1002/ajmg.1320510222

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.PMID 8092199Read ↗

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR geneSemantic proximity Read ↗

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Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.Semantic proximity Read ↗

Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.Semantic proximity Read ↗

Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.Semantic proximity Read ↗

Branchial arch defects and 19p13.12 microdeletion: defining the critical region into a 0.8 M base interval.Semantic proximity Read ↗

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3Semantic proximity Read ↗

Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13.Semantic proximity Read ↗

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