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This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.

This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.

This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.

This study found that anabolic steroid use combined with plakoglobin deficiency caused pathological atrial electrical remodeling in young male mice, suggesting a higher risk of atrial myopathy for males with desmosomal gene variants.

This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.