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Article

EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions.

Pediatric nephrology (Berlin, Germany) - 1 Apr 2006

Okada Michiyo, Fujimaru Rika, Morimoto Noriko, Satomura Kenichi, Kaku Yoshikazu, Tsuzuki Kazuo, Nozu Kandai, Okuyama Torayuki, Iijima Kazumoto

Abstract excerpt

We isolated genomic DNA from 15 patients with branchio-oto-renal (BOR) syndrome or BOR-related conditions. Seven patients had BOR syndrome (two familial and five sporadic), and eight had deafness and renal malformations without branchial fistula (BOR-related conditions). We analyzed all exons and exon-intron boundaries of EYA1 and SIX1 using the polymerase chain reaction (PCR) direct sequencing, and characterized...

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Source

Identifiers

PMID: 16491411
DOI: 10.1007/s00467-006-0041-6

Genes

EYA1
SIX1

Provenance

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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