Associated Papers
Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.
Doğan Arı AB et al.
European Journal of Pediatrics, 2025
The First Colombian Patient with CDH3-Related Hypotrichosis with Juvenile Macular Dystrophy.
Prieto LE et al.
Skin Appendage Disorders, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
The first Japanese family of CDH3-related hypotrichosis with juvenile macular dystrophy.
Hayashi T et al.
Molecular Genetics & Genomic Medicine, 2021
Hypotrichosis with juvenile macular dystrophy.
Oliveira-Ferreira C et al.
Ophthalmic Genetics, 2019
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
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.
Blanco-Kelly F et al.
Bmc Medical Genetics, 2017
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
Hull S et al.
Jama Ophthalmology, 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
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
[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.
Almeida FT et al.
International Journal of Trichology, 0