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Article

Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 2012

Halford Stephanie, Holt Richard, Németh Andrea H, Downes Susan M

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23143461
DOI: 10.1001/archophthalmol.2012.708

Genes

CDH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.PMID 23143461Read ↗

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Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencingSemantic proximity Read ↗

Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.Semantic proximity Read ↗

Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).Semantic proximity Read ↗

The first Japanese family of CDH3-related hypotrichosis with juvenile macular dystrophy.Semantic proximity Read ↗

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.Semantic proximity Read ↗

Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3 -related hypotrichosis with juvenile macular dystrophy.Semantic proximity Read ↗

Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.Semantic proximity Read ↗

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.Semantic proximity Read ↗

Hypotrichosis with Juvenile Macular Dystrophy in a Patient with Cadherin 3 (CDH3) Mutation.Semantic proximity Read ↗

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