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Article

EYA1-related disorders: two clinical cases and a literature review.

International journal of pediatric otorhinolaryngology - 1 Aug 2014

Castiglione Alessandro, Melchionda Salvatore, Carella Massimo, Trevisi Patrizia, Bovo Roberto, Manara Renzo, Martini Alessandro

Abstract excerpt

OBJECTIVES: To delineate the diagnostic and rehabilitative aspects of syndromes that have overlapping features, we present the cases of two unrelated Caucasian males affected by hearing impairment, preauricular pits and cervical fistulae. Specific findings that are helpful in the diagnosis and management of EYA1-related disorders are highlighted. METHODS: Genetic, otologic, imaging, eye and renal evaluations were...

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Source

Identifiers

PMID: 24803398
DOI: 10.1016/j.ijporl.2014.03.032

Genes

EYA1

Variants

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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