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    Research 30 of 163

    1. Epidermal differentiation: The role of proteases and their inhibitors European Journal of Cell Biology · 2004 · 118 citations
    2. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities Archives of dermatological research · 2017 · 3 citations
    3. Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments. PubMed · 2025
    4. Netherton Syndrome – Responding to Oral Retinoids International Journal of Trichology · 2025
    5. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    6. Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome Dermatology · 2014 · 11 citations
    7. Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report 2025
    8. Office Diagnosis of Hair Shaft Defects Seminars in cutaneous medicine and surgery · 2006 · 33 citations
    9. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    10. 9. Immunology and Genetics Medical & surgical dermatology · 2009
    11. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
    12. Bamboo Hair Syndrome or Netherton Syndrome - A Case Report IOSR journal of dental and medical sciences · 2017
    13. Successful management of Netherton syndrome using IVIG and dupilumab: A case report Journal of Allergy and Clinical Immunology Global · 2025 · 1 citations
    14. Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder OBM Genetics · 2025
    15. LEKTI: Netherton Syndrome and Atopic Dermatitis InTech eBooks · 2013 · 1 citations
    16. Netherton Syndrome Associated with Growth Hormone Deficiency Pediatric Dermatology · 2013 · 21 citations
    17. Netherton Syndrome Harper's Textbook of Pediatric Dermatology · 2019
    18. LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome Journal of Investigative Dermatology · 2024
    19. Severe Hypernatremia as Presentation of Netherton Syndrome Global Medical Genetics · 2023
    20. Genetics of Alopecia Encyclopedia of Life Sciences · 2012
    21. Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images Clinical Case Reports · 2025
    22. Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2026
    23. Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata Case Reports in Dermatology · 2026
    24. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    25. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    26. Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity Nature Genetics · 2004 · 372 citations
    27. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    28. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    29. Potential genetic associations of acne scar phenotypes: IL1A in fibrotic scarring and CYB5R1 in atrophic scarring Biomedical Research and Therapy · 2026
    30. Ichthyosis in Unani Medicine: A Comprehensive Review of Disorders of Cornification and their Modern Dermatological Correlates International Journal of Science and Research (IJSR) · 2026