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March 2025 in “European Journal of Medical Genetics” Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
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August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
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May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
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July 2008 in “BMC Genomics” Alpha 6 + /MHCI - cells have stem cell traits and are similar to mouse hair follicle stem cells.
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A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
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