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Article

Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation.

Auris, nasus, larynx - 1 Dec 2021

Yamazaki Hiroshi, Nakamura Takeshi, Hosono Katsuhiro, Yamaguchi Tomoya, Hiratsuka Yasuyuki, Hotta Yoshihiro, Takahashi Makio

Abstract excerpt

OBJECTIVE: Axenfeld-Rieger syndrome (ARS) type 3 is a rare autosomal dominant disease, characterized by anterior segment dysgenesis of the eye, hearing loss, and cardiac defects. ARS type 3 is highly associated with FOXC1 mutations, which induces developmental disorders of neural crest cells. Most studies about ARS patients focused on ophthalmologic findings, but details in their hearing loss have not yet been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 32741584
DOI: 10.1016/j.anl.2020.07.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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