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January 1989 in “Springer eBooks” March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
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May 1988 in “Journal of Molecular Evolution” June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
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January 1992 in “Filosofia oggi” PRP gel is a safe, affordable treatment needing trained staff and proper facilities.
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
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October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
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A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
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