Associated Papers
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
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
Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function.
Leibu R et al.
Ophthalmology, 2006
Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.
Indelman M et al.
The British Journal of Dermatology, 2005
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).
Kjaer KW et al.
Journal of Medical Genetics, 2005
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.
Indelman M et al.
The Journal of Investigative Dermatology, 2003
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.
Sprecher E et al.
Nature Genetics, 2001
[Individualization of X-flavimaculated macular dystrophy in hereditary macular dystrophies].
François P et al.
Ophtalmologie : Organe De La Societe Francaise D'ophtalmologie, 0
Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.
Vicente LP et al.
Arquivos Brasileiros De Oftalmologia, 0