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    1. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    2. Genetic hair and nail disorders Clinics in dermatology · 2005 · 37 citations
    3. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    4. Keratin disorders: from gene to therapy 2011 · 109 citations
    5. N02. Hair and Nails Australasian Journal of Dermatology · 1997
    6. Commonly associated disorders with complete scalp alopecia in early childhood: A review International journal of trichology · 2023
    7. A new type of pachyonychia congenita. PubMed · 2001 · 10 citations
    8. Hair and Nail Relationship Skinmed · 2005 · 21 citations
    9. Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia 2009 · 42 citations
    10. Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation European Journal of Dermatology · 2010 · 11 citations
    11. SPECIFIC ECTODERMAL ENHANCERS CONTROL THE EXPRESSION OF<i>Hoxc</i>GENES IN DEVELOPING MAMMALIAN INTEGUMENTS bioRxiv (Cold Spring Harbor Laboratory) · 2020
    12. Familial Pure Hair–Nail Ectodermal Dysplasia in Yemen: A Father–Son Case Report with Clinical Correlation Journal of Clinical and Investigative Dermatology · 2026
    13. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014 · 21 citations
    14. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    15. 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
    16. Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype Journal of Investigative Dermatology · 2000 · 88 citations
    17. Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay American Journal of Medical Genetics Part A · 2003 · 5 citations
    18. A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue Journal of Investigative Dermatology · 2004 · 31 citations
    19. Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern Journal der Deutschen Dermatologischen Gesellschaft · 2004 · 30 citations
    20. Dermatopathology and molecular genetics Journal of The American Academy of Dermatology · 2008 · 12 citations
    21. 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
    22. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026
    23. Mammalian-specific ectodermal enhancers control the expression of <i>Hoxc</i> genes in developing nails and hair follicles Proceedings of the National Academy of Sciences · 2020 · 25 citations
    24. Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata) Journal of Cutaneous Pathology · 2025
    25. Human ClinicalPhenotype Associated with FOXN1 Mutations Advances in experimental medicine and biology · 2009 · 22 citations
    26. Clouston’s syndrome: a rare case report International Journal of Research in Dermatology · 2020
    27. Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder Indian dermatology online journal · 2013 · 12 citations
    28. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    29. Hair Shaft Dysplasias International Journal of Dermatology · 1988 · 19 citations
    30. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations