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Article

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

Human genetics - 1 Oct 2008

Ahmed Zubair M, Riazuddin Saima, Aye Sandar, Ali Rana A, Venselaar Hanka, Anwar Saima, Belyantseva Polina P, Qasim Muhammad, Riazuddin Sheikh, Friedman Thomas B

Abstract excerpt

Mutations of PCDH15, encoding protocadherin 15, can cause either combined hearing and vision impairment (type 1 Usher syndrome; USH1F) or nonsyndromic deafness (DFNB23). Human PCDH15 is reported to be composed of 35 exons and encodes a variety of isoforms with 3-11 ectodomains (ECs), a transmembr...

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Source

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Identifiers

PMID: 18719945
DOI: 10.1007/s00439-008-0543-3
PMCID: PMC2716558

Genes

PCDH15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18719945-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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