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January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
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September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
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November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
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January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
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