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Article

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Orphanet journal of rare diseases - 18 Nov 2014

Aparisi María J, Aller Elena, Fuster-García Carla, García-García Gema, Rodrigo Regina, Vázquez-Manrique Rafael P, Blanco-Kelly Fiona, Ayuso Carmen, Roux Anne-Françoise, Jaijo Teresa, Millán José M

Abstract excerpt

BACKGROUND: Usher syndrome is an autosomal recessive disease that associates sensorineural hearing loss, retinitis pigmentosa and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous. To date, 10 genes have been associated with the disease, making its molecular d...

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Source

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Identifiers

PMID: 25404053
DOI: 10.1186/s13023-014-0168-7
PMCID: PMC4245769

Genes

CDH23
CIB2
CLRN1
PCDH15
PDZD7
VEZT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25404053-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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