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    Research 541–570 of 1000+

    1. Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives International Journal of Molecular Sciences · 2024 · 9 citations
    2. Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome 2022 · 3 citations
    3. Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports Journal of neuroendocrinology · 2023 · 1 citations
    4. Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock BMC Pediatrics · 2025
    5. Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection Biomedicines · 2025
    6. Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant Genes · 2025
    7. Heterozygous <i>COL5A1</i> deletion in a cat with classical Ehlers–Danlos syndrome Animal genetics · 2024
    8. Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations Cells · 2023
    9. LBODP010 A Case of Glucocorticoid Resistance Syndrome Journal of the Endocrine Society · 2022
    10. Clouston’s syndrome: a rare case report International Journal of Research in Dermatology · 2020
    11. Hypotrichosis in a child with olmsted syndrome Indian Dermatology Online Journal · 2018
    12. Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors Dermatologic Therapy · 2022
    13. A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis Mammalian genome · 2009 · 21 citations
    14. Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease Skin appendage disorders · 2018 · 2 citations
    15. Deletion of Deoxyribonucleic Acid Binding Domain of the Vitamin D Receptor Abrogates Genomic and Nongenomic Functions of Vitamin D Molecular Endocrinology · 2002 · 277 citations
    16. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    17. Keratins of the Human Hair Follicle International review of cytology · 2005 · 276 citations
    18. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    19. Disorders of Keratinization American journal of clinical dermatology · 2004 · 44 citations
    20. Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease Frontiers in immunology · 2020 · 41 citations
    21. Three Streams for the Mechanism of Hair Graying 2018 · 26 citations
    22. Association of epidemiological and biochemical factors with premature graying of hair: A case–control study International journal of trichology · 2018 · 16 citations
    23. Single-Cell Transcriptomics Reveals the Molecular Anatomy of Sheep Hair Follicle Heterogeneity and Wool Curvature Frontiers in cell and developmental biology · 2021 · 10 citations
    24. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) Orphanet Journal of Rare Diseases · 2022 · 8 citations
    25. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
    26. Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia Children · 2023 · 4 citations
    27. Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita Science Advances · 2025 · 3 citations
    28. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    29. Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome Dermatopathology · 2025
    30. Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib Frontiers in Medicine · 2025