Associated Papers
The First Colombian Patient with CDH3-Related Hypotrichosis with Juvenile Macular Dystrophy.
Prieto LE et al.
Skin Appendage Disorders, 2025
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Lenassi E et al.
Journal of Medical Genetics, 2023
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
Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy.
Singh MS et al.
Scientific Reports, 2016
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations.
Basel-Vanagaite L et al.
Molecular Syndromology, 2010
Select a paper to view details