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    Glossary Genetic Mutations

    changes in DNA sequence that can affect traits or health

    Genetic mutations are changes in the DNA sequence of an organism's genome. These alterations can occur naturally during DNA replication or be induced by environmental factors such as radiation or chemicals. While some mutations are harmless or even beneficial, others can lead to diseases or disorders, including various forms of alopecia.

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    Research 10 of 1000+

    1. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation Hormones · 2016
    2. Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations Australasian journal of dermatology (Print) · 2024
    3. A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu Genomics · 2006 · 18 citations
    4. Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with <i>AIRE</i> gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib Clinical and Experimental Dermatology · 2026
    5. BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the <i>AIRE</i> gene mutation treated with ruxolitinib British Journal of Dermatology · 2025
    6. Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker Australasian Journal of Dermatology · 2019 · 7 citations
    7. Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica 2010 · 16 citations
    8. Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency The Journal of Clinical Endocrinology and Metabolism · 2008 · 81 citations
    9. Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation Biochemical Journal · 2019 · 15 citations
    10. Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation. Clinical and Experimental Dermatology · 1997
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    Community 10 of 244

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