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In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.

This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.

This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.

Mutations in the DSG4 gene cause specific hair and scalp issues.

This study found that a mutation in the BMP12/GDF7 gene is associated with the Naked neck trait in chickens, reducing neck feathering due to altered signaling pathways.