CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

doi:10.1086/341558

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Article

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

American journal of human genetics - 1 Aug 2002

Astuto L M, Bork J M, Weston M D, Askew J W, Fields R R, Orten D J, Ohliger S J, Riazuddin S, Morell R J, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller C G, Cremers C W R J, Ayuso C, Heckenlively J R, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman T B, Kimberling W J

Abstract excerpt

Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple...

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PMID: 12075507
DOI: 10.1086/341558
PMCID: PMC379159

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CDH23

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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