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Article

A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy.

Archives of dermatological research - 1 Nov 2010

Kamran-ul-Hassan Naqvi Syed, Azeem Zahid, Ali Ghazanfar, Ahmad Wasim

Abstract excerpt

Mutations in CDH3 gene, encoding P-cadherin, are responsible for hypotrichosis with juvenile macular dystrophy (HJMD), which is a rare autosomal recessive disorder. The HJMD is characterized by congenital sparse hair on scalp and progressive severe degenerative changes of the retinal macula which...

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Source

Identifiers

PMID: 20140736
DOI: 10.1007/s00403-010-1035-6

Genes

CDH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20140736-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy.PMID 20140736Read ↗

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