Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
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
40725402 (PubMed )
Supplement: genes-16-00745-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
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
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