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Article

Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.

Arquivos brasileiros de oftalmologia - 1 Jan 2000

Vicente Lucas Perez, Finzi Simone, Susanna Remo, Young Terri L

Abstract excerpt

Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade of life. It is associated with mutations of the cadherin 3 (CDH3) gene, which result in abnormal expression of P-cadherin. Mutations in CDH3 are related to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28380103
DOI: 10.5935/0004-2749.20170013

Genes

CDH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.PMID 28380103Read ↗

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

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

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

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

The first Japanese family of CDH3-related 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 ↗

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

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 ↗

A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy.Semantic proximity Read ↗

Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation.Semantic proximity Read ↗

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