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Article

Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome.

International journal of pediatric otorhinolaryngology - 1 Aug 2005

Kim Sung Hee, Shin Jong-Hun, Yeo Chang-Ki, Chang Soon Hee, Park Su-Yon, Cho Eun Hae, Ki Chang-Seok, Kim Jong-Won

Abstract excerpt

The branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss, and renal anomalies. Mutations in the EYA1 gene on the chromosome band 8q13.3, the human homologue of the Drosophila eyes absent (eya) gene, have been identified to be the underlying genetic defects of the...

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Branchio-Oto-Renal Syndrome
Chromosomes, Human, Pair 8
Ear
Hearing Loss
Kidney

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Tyrosine Phosphatases

Tomography, X-Ray Computed

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Identifiers

PMID: 16005355
DOI: 10.1016/j.ijporl.2005.03.003

Genes

EYA1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome.PMID 16005355Read ↗

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Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.Semantic proximity Read ↗

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

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