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
Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).
Khan AO et al.
Ophthalmic Genetics, 2016
A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy.
Kamran-ul-Hassan Naqvi S et al.
Archives of Dermatological Research, 2010
CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations.
Basel-Vanagaite L et al.
Molecular Syndromology, 2010
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