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    Research 31–60 of 1000+

    1. Gonadal Dysgenesis: Associations between Clinical Features and Sex of Rearing. Endocrine Journal · 1997 · 9 citations
    2. 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
    3. Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging American Journal of Medical Genetics - Part A · 2013 · 15 citations
    4. An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia Cureus · 2024
    5. Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia Pediatria i Medycyna Rodzinna · 2025 · 1 citations
    6. Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia American Journal of Human Genetics · 2007 · 109 citations
    7. 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
    8. Familial Pure Hair–Nail Ectodermal Dysplasia in Yemen: A Father–Son Case Report with Clinical Correlation Journal of Clinical and Investigative Dermatology · 2026
    9. Scalp melanoma: Distinctive high risk clinical and histological features Australasian Journal of Dermatology · 2016 · 37 citations
    10. 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
    11. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features Nature Communications · 2016 · 196 citations
    12. Follicular dysplasia in two cows Veterinary Dermatology · 1999 · 10 citations
    13. Discrimination of Dysplastic Nevi from Common Melanocytic Nevi by Cellular and Molecular Criteria Journal of Investigative Dermatology · 2016 · 41 citations
    14. DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS Kırıkkale Üniversitesi Tıp Fakültesi Dergisi · 2024
    15. PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in <i>ACTB</i> 2023
    16. 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly 2019
    17. A direct link between<i>Prss53</i>, hair curvature, and skeletal dysplasia bioRxiv (Cold Spring Harbor Laboratory) · 2019
    18. 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR Journal of Investigative Dermatology · 2016
    19. HAIR-ROOT ADAPTATION TO MARASMUS IN ANDEAN INDIAN CHILDREN The Lancet · 1969 · 32 citations
    20. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024
    21. 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
    22. Plakophilin 1 suppresses keratinocyte innate immune responses through DExD/H helicases 2026
    23. N02. Hair and Nails Australasian Journal of Dermatology · 1997
    24. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    25. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation Nature Communications · 2017 · 96 citations
    26. Lichen Planopilaris with Pili Torti and Ectodermal Dysplasia: a hair curling case report. Case Reports in Dermatology · 2025
    27. Atrichia congenita with papular lesions: A rare cause of pediatric alopecia TURKDERM · 2025
    28. Congenital Atrichia: A Case Report International journal of science and healthcare research · 2023
    29. Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations 2022
    30. Clinical Snippets Journal of Investigative Dermatology · 2003