December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
November 2025 in “BMC Genomics” Wrinkled skin in Xiang pigs is linked to gene changes related to oxidative stress and the extracellular matrix.