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Article

Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.

Clinical genetics - 1 Mar 2008

Olavarrieta L, Morales-Angulo C, del Castillo I, Moreno F, Moreno-Pelayo M A

Abstract excerpt

Branchio-oto-renal (BOR) and Stickler (STL) syndromes are disorders that include hearing loss among their clinical features. STL syndrome type I (STL1) is a combination of ophthalmic, orofacial, articular, and auditory manifestations, caused by mutations in the COL2A1. BOR syndrome is an autosoma...

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Source

Identifiers

PMID: 18177466
DOI: 10.1111/j.1399-0004.2007.00947.x

Genes

EYA1
SIX1
SIX5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18177466-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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