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    1. Inherited ichthyoses/generalized Mendelian disorders of cornification European journal of human genetics · 2012 · 81 citations
    2. Inherited ichthyosis: Syndromic forms Journal of dermatology · 2016 · 47 citations
    3. 155 Exploring perceived quality of life in middle- to old-aged patients with inherited ichthyosis: a qualitative study Journal of Investigative Dermatology · 2024
    4. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    5. Inherited Disorders of Corneocyte Proteins Current problems in dermatology · 2010 · 11 citations
    6. Clinical Manifestation and Classification of Japanese patients with Inherited Keratinizing Disorders 2012 · 1 citations
    7. Inherited disorders of the skin in human and mouse: from development to differentiation. The International Journal of Developmental Biology · 2004 · 25 citations
    8. Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases Acta dermato-venereologica · 2020 · 1 citations
    9. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis Acta dermato-venereologica · 2020 · 18 citations
    10. Semidominant Inheritance in Epidermolytic Ichthyosis Journal of Investigative Dermatology · 2013 · 10 citations
    11. A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response American Journal of Medical Genetics Part A · 2021 · 5 citations
    12. 305 Overlaps between inflammatory dermatoses and ichthyoses: need for novel therapeutic approaches Journal of Investigative Dermatology · 2022
    13. Disorders of Keratinization 2014
    14. Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report Pediatric Dermatology · 2023 · 1 citations
    15. Ichthyosis in Unani Medicine: A Comprehensive Review of Disorders of Cornification and their Modern Dermatological Correlates International Journal of Science and Research (IJSR) · 2026
    16. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    17. Congenital and Hereditary Skin Diseases 2018
    18. Keratin gene mutations in disorders of human skin and its appendages Archives of Biochemistry and Biophysics · 2010 · 185 citations
    19. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    20. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    21. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    22. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients BMC Medical Genetics · 2020 · 6 citations
    23. LAMELLAR ICHTHYOSIS: ONE CASE REPORT International Journal of Medical Reviews and Case Reports · 2019 · 1 citations
    24. Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome British Journal of Dermatology · 2011 · 6 citations
    25. Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · 2014 · 87 citations
    26. A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis European Journal of Medical Genetics · 2011 · 5 citations
    27. First Symposium of Ichthyosis Experts 2013 · 1 citations
    28. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001 · 130 citations
    29. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    30. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations