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ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
June 2025 in “British Journal of Dermatology” Lichen planopilaris may have a genetic link.
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April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
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