Associated Papers
Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles.
Al Hawsawi K et al.
Frontiers in Genetics, 2022
Genetic variants associated with diseases in Afghan population.
Zadran SK et al.
Molecular Genetics & Genomic Medicine, 2021
33486863 (PubMed )
Supplement: MGG3-9-e1608-s001.xlsx › Sheet1
Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities.
Lee JYW et al.
The British Journal of Dermatology, 2021
Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.
Polivka L et al.
Journal of Medical Genetics, 2016
No evidence of skin blisters with human desmocollin-3 gene mutation.
Payne AS
American Journal of Human Genetics, 2010
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.
Ayub M et al.
American Journal of Human Genetics, 2009
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