Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

American journal of medical genetics - 13 Apr 1998

Kumar S, Marres H A, Cremers C W, Kimberling W J

Abstract excerpt

The manifestations of branchio-oto-renal syndrome (BOR), Treacher Collins syndrome, tricho-rhino-phalangeal syndrome, van der Woude syndrome, and Langer-Giedion syndrome are well-defined; these conditions represent clinically and genetically separate syndromes. Autosomal-dominant branchio-oto-renal syndrome comprises preauricular pits, branchial fistulas, hearing loss, and renal anomalies. However, several...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to DNA
Share to Genes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Markers

Share to Infant

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 9556298

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13.PMID 9556298Read ↗

Branchio-oto-renal syndrome.Semantic proximity Read ↗

Branchio-oto-renal syndrome.Semantic proximity Read ↗

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

Phenotypic manifestations of branchio-oto-renal syndrome.Semantic proximity Read ↗

Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.Semantic proximity Read ↗

Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto SyndromeSemantic proximity Read ↗

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.Semantic proximity Read ↗

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.Semantic proximity Read ↗

BOR and BO syndromes are allelic defects of EYA1.Semantic proximity Read ↗

Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene.Semantic proximity Read ↗

New' manifestations of BOR syndrome.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.