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    1. 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
    2. Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies International reviews of immunology · 2015 · 9 citations
    3. Strange cutaneous abnormalities and polyposis in an Asiatic man European journal of internal medicine · 2019
    4. What Syndrome Is This? Pediatric dermatology · 1993 · 5 citations
    5. Alopecia in Cronkhite-Canada syndrome British Journal of Dermatology · 2017 · 2 citations
    6. Clinical features of taste disorders in Cronkhite-Canada syndrome: A report of 10 cases Chemical Senses · 2024
    7. Hair and Nail Relationship Skinmed · 2005 · 21 citations
    8. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    9. Connexin mutations in human disease Experimental Dermatology · 2004 · 4 citations
    10. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026
    11. Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome The American Journal of Dermatopathology · 2005 · 31 citations
    12. Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease Annals of Internal Medicine · 1971 · 32 citations
    13. Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Dermatology · 1997 · 20 citations
    14. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia Genes · 2024
    15. Gain‐of‐function variants in the <i>ODC1</i> gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities American Journal of Medical Genetics Part A · 2018 · 28 citations
    16. Trichoscopy in Hair Shaft Disorders Dermatologic Clinics · 2018 · 36 citations
    17. Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities Neuropediatrics · 2012
    18. Altered skin development and impaired proliferative and inflammatory responses in transgenic mice overexpressing the glucocorticoid receptor The FASEB Journal · 2001 · 92 citations
    19. Whiskers amiss, a new vibrissae and hair mutation near the Krt1 cluster on mouse Chromosome 11 Mammalian Genome · 2000 · 7 citations
    20. Clouston’s syndrome: a rare case report International Journal of Research in Dermatology · 2020
    21. Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia The Journal of Dermatology · 2019 · 2 citations
    22. Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome) ˜The œAmerican journal of medicine · 1969 · 26 citations
    23. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    24. Ectodermal Dysplasia: Otolaryngologic Manifestations and Management ˜The œLaryngoscope · 2002 · 37 citations
    25. Disrupted Ectodermal Organ Morphogenesis in Mice with a Conditional Histone Deacetylase 1, 2 Deletion in the Epidermis Journal of Investigative Dermatology · 2013 · 32 citations
    26. 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
    27. Advances in the genetic understanding of hypohidrotic ectodermal dysplasia Expert opinion on orphan drugs · 2017 · 1 citations
    28. An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia Cureus · 2024
    29. Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation Nature genetics · 2000 · 694 citations
    30. Genetics of Structural Hair Disorders Journal of Investigative Dermatology · 2012 · 17 citations