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    1. Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome The American Journal of Dermatopathology · 2005 · 31 citations
    2. Uncombable hair syndrome: Observations on response to biotin and occurrence in siblings with ectodermal dysplasia Journal of the American Academy of Dermatology · 1985 · 101 citations
    3. Molecular mechanisms of ectodermal dysplasia syndromes Työväentutkimus Vuosikirja · 2004 · 3 citations
    4. A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome Indian dermatology online journal · 2023
    5. KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia Pediatric Dermatology · 2000 · 6 citations
    6. Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report Clinical Case Reports · 2026
    7. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    8. Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations 2022
    9. Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Dermatology · 1997 · 20 citations
    10. A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome? Clinical Dysmorphology · 1995 · 9 citations
    11. The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region American Journal of Medical Genetics · 1997 · 39 citations
    12. Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation 2016
    13. A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report Journal of Paediatrics and Child Health · 2025
    14. Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias Journal of the American Academy of Dermatology · 1990 · 144 citations
    15. 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly 2019
    16. Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin International Journal of Dermatology · 2009 · 20 citations
    17. Ectodermal Dysplasia: Variable Expressions Indian Journal of Dermatology · 2025
    18. WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes American journal of human genetics · 2009 · 197 citations
    19. Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color Journal of the American Academy of Dermatology · 2005 · 25 citations
    20. Clouston’s syndrome: a rare case report International Journal of Research in Dermatology · 2020
    21. Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin Pediatric Dermatology · 2007 · 49 citations
    22. Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies International reviews of immunology · 2015 · 9 citations
    23. Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família Anais Brasileiros de Dermatologia · 2004 · 6 citations
    24. Recombinant Thrombomodulin Used to Successfully Treat Cronkhite-Canada Syndrome with Disseminated Intravascular Coagulation due to Sepsis in a Compromised Patient Internal Medicine · 2018 · 3 citations
    25. Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in <i>WNT10A</i> The Journal of Dermatology · 2017 · 5 citations
    26. ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India Indian dermatology online journal · 2018 · 1 citations
    27. Short anagen hair syndrome is caused by mutations in the <i>WNT10A</i> gene and has a genetic overlap with male pattern hair loss British Journal of Dermatology · 2023
    28. Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation Case reports in dermatological medicine · 2023
    29. Omenn syndrome in a 10-month-old male with athymia and VACTERL association Journal of allergy and clinical Immunology. Global · 2023
    30. BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations British Journal of Dermatology · 2021