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This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.

This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.

This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.

Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.

This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.