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July 1994 in “Journal of Dermatological Science” Introducing the rat OTC gene normalized hair growth in SPF-ASH mice.
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
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Introducing the OTC gene improved symptoms in mice with OTC deficiency.