Varaico: Literature-Extracted Genetic Variants

Gene:CDH3
Variant:p.S475Splc
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CDH3

NM_001793.6:p.S475Splc

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

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 with juvenile macular dystrophy: a case report with molecular study.

Vicente LP et al.

Arquivos Brasileiros De Oftalmologia, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."