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    1. Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report Genes · 2026
    2. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl 2011 · 6 citations
    3. Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with <i>AIRE</i> gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib Clinical and Experimental Dermatology · 2026
    4. Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease 2018 · 26 citations
    5. The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17 ˜The œAmerican journal of pathology · 2011 · 24 citations
    6. Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review Biomedicines · 2024
    7. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    8. A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome Indian dermatology online journal · 2023
    9. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    10. Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia 2009 · 42 citations
    11. Disrupted Ectodermal Organ Morphogenesis in Mice with a Conditional Histone Deacetylase 1, 2 Deletion in the Epidermis Journal of Investigative Dermatology · 2013 · 32 citations
    12. A Homozygous Frameshift Mutation in the<i>HOXC13</i>Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family Human Mutation · 2013 · 30 citations
    13. Familial Pure Hair–Nail Ectodermal Dysplasia in Yemen: A Father–Son Case Report with Clinical Correlation Journal of Clinical and Investigative Dermatology · 2026
    14. High‐Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp–Hodgkin Ectodermal Dysplasia Pediatric dermatology · 2016 · 3 citations
    15. Clouston’s syndrome: a rare case report International Journal of Research in Dermatology · 2020
    16. Hair and Nail Relationship Skinmed · 2005 · 21 citations
    17. The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle 2015 · 15 citations
    18. Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review Indian Journal of Dermatology · 2016 · 13 citations
    19. Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder Indian dermatology online journal · 2013 · 12 citations
    20. Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família Anais Brasileiros de Dermatologia · 2004 · 6 citations
    21. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    22. Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation Case reports in dermatological medicine · 2023
    23. Index Harper's Textbook of Pediatric Dermatology · 2019
    24. Dermatopathology and molecular genetics Journal of The American Academy of Dermatology · 2008 · 12 citations
    25. Clinical case of alopecia totalis in pediatric practice Sučasna pedìatrìâ. Ukraïna · 2023
    26. Keratin disorders: from gene to therapy 2011 · 109 citations
    27. Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report Journal of Chittagong Medical College Teachers Association · 2026
    28. Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia Australasian Journal of Dermatology · 2004 · 21 citations
    29. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study 2018
    30. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations