Associated Papers
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
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case Report.
Kadhi A et al.
Cold Spring Harbor Molecular Case Studies, 2022
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
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