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    1. Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII Helda (University of Helsinki) · 2013
    2. 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
    3. Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation Nature genetics · 2000 · 694 citations
    4. 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly 2019
    5. A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome? Clinical Dysmorphology · 1995 · 9 citations
    6. A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders Experimental Dermatology · 2026
    7. A Unique Case of Trichorrhexis Nodosa—"Bamboo Hairs" Archives of Dermatology · 1958 · 264 citations
    8. Ulerythema Ophryogenes Archives of Dermatology · 1964 · 23 citations
    9. Canestick Lesion of Vellus Hair in Netherton's Syndrome Archives of Dermatology · 1985 · 9 citations
    10. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation Nature Communications · 2017 · 96 citations
    11. Ectoderm-Targeted Overexpression of the Glucocorticoid Receptor Induces Hypohidrotic Ectodermal Dysplasia Endocrinology · 2005 · 46 citations
    12. Disrupted Ectodermal Organ Morphogenesis in Mice with a Conditional Histone Deacetylase 1, 2 Deletion in the Epidermis Journal of Investigative Dermatology · 2013 · 32 citations
    13. Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia Children · 2023 · 4 citations
    14. Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review Biomedicines · 2024
    15. Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development Frontiers in Cell and Developmental Biology · 2020 · 12 citations
    16. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    17. Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia The Journal of Dermatology · 2019 · 2 citations
    18. A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome Indian dermatology online journal · 2023
    19. Lichen Planopilaris with Pili Torti and Ectodermal Dysplasia: a hair curling case report. Case Reports in Dermatology · 2025
    20. Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia Dermatology Online Journal · 2021
    21. Human Induced Pluripotent Stem Cell–Derived Ectodermal Precursor Cells Contribute to Hair Follicle Morphogenesis In Vivo 2013 · 64 citations
    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. A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1 Journal of Medical Genetics · 2012 · 17 citations
    24. Orai1 expression pattern in tooth and craniofacial ectodermal tissues and potential functions during ameloblast differentiation Developmental Dynamics · 2015 · 15 citations
    25. Omenn syndrome in a 10-month-old male with athymia and VACTERL association Journal of allergy and clinical Immunology. Global · 2023
    26. Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities Neuropediatrics · 2012
    27. LB1076 Using the frog embryonic epidermis as a model to study desmosome function during development Journal of Investigative Dermatology · 2019
    28. Expression ofWise in chick embryos Developmental Dynamics · 2007 · 6 citations
    29. Edar Signaling in the Control of Hair Follicle Development 2005 · 71 citations
    30. The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle 2015 · 15 citations