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    Research 30 of 214

    1. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome 2002 · 152 citations
    2. A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome Clinical and Experimental Dermatology · 2010 · 34 citations
    3. Connexin 26 (<i>GJB2</i>) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma The Journal of Dermatology · 2011 · 11 citations
    4. Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient International journal of dermatology and venereology · 2022
    5. 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome Journal of Investigative Dermatology · 2017
    6. Connexin mutations in human disease Experimental Dermatology · 2004 · 4 citations
    7. Porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus: Is nomenclature “porokeratotic adnexal ostial nevus” more appropriate? Indian Dermatology Online Journal · 2019 · 4 citations
    8. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    9. <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis Animal Genetics · 2026
    10. Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair Journal of Investigative Dermatology · 2017 · 10 citations
    11. 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
    12. Nociceptive and Nonnociceptive Roles of TRPV3 and Its “Druggability” Methods in pharmacology and toxicology · 2012
    13. Biochemistry of epidermal stem cells Biochimica et Biophysica Acta (BBA) - General Subjects · 2012 · 26 citations
    14. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    15. Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion Journal of Clinical Medicine · 2021 · 4 citations
    16. A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA The Journal of Clinical Endocrinology & Metabolism · 2022 · 4 citations
    17. Defining the Cellular Environment in the Organ of Corti following Extensive Hair Cell Loss: A Basis for Future Sensory Cell Replacement in the Cochlea PloS one · 2012 · 71 citations
    18. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    19. To grow or not to grow: Hair morphogenesis and human genetic hair disorders Seminars in Cell & Developmental Biology · 2013 · 43 citations
    20. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    21. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    22. RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development Orphanet journal of rare diseases · 2022 · 5 citations
    23. Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency Journal of Investigative Dermatology · 2014 · 24 citations
    24. Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse The Journal of Physiology · 2024 · 7 citations
    25. Painful thickened skin on the soles of the feet JAAD case reports · 2022
    26. Genetics Springer eBooks · 2014
    27. Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism Authorea (Authorea) · 2022
    28. Bioactive Compound-Loaded Nanocarriers for Hair Growth Promotion: Current Status and Future Perspectives Plants · 2023
    29. Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease Frontiers in immunology · 2020 · 41 citations
    30. Porokeratotic Eccrine Ostial and Dermal Duct Nevus: A Report of Rare Late-Onset Solitary Lesion Clinical Cosmetic and Investigational Dermatology · 2025 · 1 citations