Varaico: Literature-Extracted Genetic Variants

Gene:CDH3
Variant:p.H575R
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CDH3

NM_001793.6:p.H575R

Associated Papers

The First Colombian Patient with CDH3-Related Hypotrichosis with Juvenile Macular Dystrophy.

Prieto LE et al.

Skin Appendage Disorders, 2025

The first reported case of CDH3-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report.

Al Zubi K et al.

Ophthalmic Genetics, 2022

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 sequencing.

Saeidian AH et al.

Molecular Genetics & Genomic Medicine, 2019

CDH3 gene related hypotrichosis and juvenile macular dystrophy - A case with a novel mutation.

Karti O et al.

American Journal of Ophthalmology Case Reports, 2017

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.

Hull S et al.

Jama Ophthalmology, 2016

Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).

Khan AO et al.

Ophthalmic Genetics, 2016

A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy.

Avitan-Hersh E et al.

International Journal of Dermatology, 2012

Cadherins as targets for genetic diseases.

El-Amraoui A et al.

Cold Spring Harbor Perspectives in Biology, 2010

CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations.

Basel-Vanagaite L et al.

Molecular Syndromology, 2010

P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle.

Shimomura Y et al.

Development (cambridge, England), 2008

Genetic diseases of junctions.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy.

Indelman M et al.

Clinical and Experimental Dermatology, 2007

[Individualization of X-flavimaculated macular dystrophy in hereditary macular dystrophies].

François P et al.

Ophtalmologie : Organe De La Societe Francaise D'ophtalmologie, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."