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Article

Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome.

Clinical dysmorphology - 1 Oct 2006

Mercer Catherine, Gilbert Rodney, Loughlin Sam, Foulds Nicola

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16957474
DOI: 10.1097/01.mcd.0000204986.54366.7c

Genes

EYA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome.PMID 16957474Read ↗

EYA1-related disorders: two clinical cases and a literature review.Semantic proximity Read ↗

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.Semantic proximity Read ↗

Novel EYA1 variants causing Branchio-oto-renal syndrome.Semantic proximity Read ↗

Otofaciocervical Syndrome and Its Overlap with Branchio‐Otorenal Spectrum: An Integrated Literature Analysis of EYA1‐Related Disorders, Including a Novel Case with an 8q13.2q13.3 DeletionSemantic proximity Read ↗

[Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants].Semantic proximity Read ↗

A family affected by branchio-oto syndrome with EYA1 mutations.Semantic proximity Read ↗

Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1.Semantic proximity Read ↗

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

Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analysesSemantic proximity Read ↗

Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.Semantic proximity Read ↗

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

[Novel duplication mutation of EYA1 causes branchio-oto-renal syndrome in a Chinese family].Semantic proximity Read ↗

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