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    Glossary Genetic Disorders

    conditions caused by DNA abnormalities, often inherited from parents

    Genetic disorders, also known as hereditary disorders or genetic diseases, are conditions caused by abnormalities in an individual's DNA. These abnormalities can be due to mutations in a single gene, multiple genes, or chromosomal changes, and they can be inherited from one or both parents. Examples include cystic fibrosis, sickle cell anemia, and Down syndrome.

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    1. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010 · 151 citations
    2. Genetic disorders of keratin: are scarring alopecias a sub-set? Journal of Dermatological Science · 1994 · 14 citations
    3. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis Acta dermato-venereologica · 2020 · 18 citations
    4. Genetic Basis of Pigmentation and Its Disorders International Journal of Dermatology · 1981 · 7 citations
    5. To grow or not to grow: Hair morphogenesis and human genetic hair disorders Seminars in Cell & Developmental Biology · 2013 · 43 citations
    6. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    7. A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders Experimental Dermatology · 2026
    8. Polarized microscopy in genetic hair disorders: case series 2025
    9. Alopecia Areata: A Review of the Genetic Variants and Immunodeficiency Disorders Associated with Alopecia Areata Skin Appendage Disorders · 2023 · 10 citations
    10. Exploring the overlap between alopecia areata and major depressive disorder: Epidemiological and genetic perspectives Journal of the European Academy of Dermatology and Venereology · 2023 · 9 citations
    11. Genetic hair and nail disorders Clinics in dermatology · 2005 · 37 citations
    12. Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants Frontiers in Genetics · 2024 · 13 citations
    13. The genetics of hair shaft disorders Journal of The American Academy of Dermatology · 2008 · 59 citations
    14. Genetics of Structural Hair Disorders Journal of Investigative Dermatology · 2012 · 17 citations
    15. Mimicking Hair Disorders by Genetic Manipulation of Organ-Cultured Human Hair Follicles Journal of Investigative Dermatology · 2012 · 5 citations
    16. Molecular Genetics of Inherited Disorders of Epidermal Keratins Encyclopedia of Life Sciences · 2009
    17. PATHOGENESIS OF GENETIC HUMAN HAIR DISORDERS The Journal of Dermatology · 1981 · 1 citations
    18. Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn Cureus · 2023 · 1 citations
    19. The Successful Treatment of Alopecia Areata with Platelet Rich Plasma in a Case of Twins with Genetic Risk for Autoimmune Disorders Hair transplant forum international · 2018
    20. A Review on Unraveling the Complexity of Autoimmune Skin Disorders: Genetic Influences, Environmental Triggers and Innovative Management Approaches Indian Journal of Pharmacy Practice · 2024 · 1 citations
    21. Hair shaft disorders in a child with loose anagen syndrome and uncombable hair: Clues to an underlying genetic disorder Indian Journal of Dermatology Venereology and Leprology · 2026
    22. Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders Annals of Nutrition and Metabolism · 1977 · 18 citations
    23. MCAS, POTS, Dysautonomia, and “Genetic Disorders” — Long COVID Observations Journal of Independent Medicine · 2026
    24. Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature Livers · 2024
    25. METABOLIC DISOEDEKS AND HAIE GEOWTH British Journal of Dermatology · 1971 · 15 citations
    26. Inherited Disorders of Corneocyte Proteins Current problems in dermatology · 2010 · 11 citations
    27. Hair shaft disorders: a rare case series International journal of research in dermatology · 2022
    28. Molecular Genetics of Alopecias Current problems in dermatology · 2015 · 9 citations
    29. Genetic Basis of Male Pattern Baldness Journal of Investigative Dermatology · 2003 · 191 citations
    30. MENSTRUAL DISORDERS IN ADOLESCENTS Pediatric Clinics of North America · 1999 · 75 citations