Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.

doi:10.1038/s10038-018-0429-8

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Article

Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.

Journal of human genetics - 1 May 2018

Unzaki Ai, Morisada Naoya, Nozu Kandai, Ye Ming Juan, Ito Shuichi, Matsunaga Tatsuo, Ishikura Kenji, Ina Shihomi, Nagatani Koji, Okamoto Takayuki, Inaba Yuji, Ito Naoko, Igarashi Toru, Kanda Shoichiro, Ito Ken, Omune Kohei, Iwaki Takuma, Ueno Kazuyuki, Yahata Mayumi, Ohtsuka Yasufumi, Nishi Eriko, Takahashi Nobuya, Ishikawa Tomoaki, Goto Shunsuke, Okamoto Nobuhiko, Iijima Kazumoto

Abstract excerpt

Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchiogenic anomalies, hearing loss, and renal anomalies. The aim of this study was to reveal the clinical phenotypes and their causative genes in Japanese BOR patients. Patients clinically diagnosed with BOR syndrome were analyzed by direct sequencing, multiplex ligation-dependent probe amplification (MLPA), array-based...

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Identifiers

PMID: 29500469
DOI: 10.1038/s10038-018-0429-8

Genes

EYA1
SALL1
SIX1

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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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