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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
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