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Article

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.

BMC biotechnology - 10 Feb 2010

Kothiyal Prachi, Cox Stephanie, Ebert Jonathan, Husami Ammar, Kenna Margaret A, Greinwald John H, Aronow Bruce J, Rehm Heidi L

Abstract excerpt

BACKGROUND: Despite current knowledge of mutations in 45 genes that can cause nonsyndromic sensorineural hearing loss (SNHL), no unified clinical test has been developed that can comprehensively detect mutations in multiple genes. We therefore designed Affymetrix resequencing microarrays capable...

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Source

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Identifiers

PMID: 20146813
DOI: 10.1186/1472-6750-10-10
PMCID: PMC2841091

Genes

CDH23
GJB2
GJB6
KCNQ1
MYO6
OTOF
TMIE
TMPRSS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20146813-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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