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    Research 181–210 of 1000+

    1. 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
    2. 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
    3. Topical minoxidil treatment for congenital alopecia in hypohidrotic ectodermal dysplasia 2013 · 12 citations
    4. A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome? Clinical Dysmorphology · 1995 · 9 citations
    5. Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions Journal of cutaneous pathology · 2012 · 7 citations
    6. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    7. Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib Acta Dermato Venereologica · 2020 · 4 citations
    8. Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands Acta dermato-venereologica · 2017 · 4 citations
    9. High‐Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp–Hodgkin Ectodermal Dysplasia Pediatric dermatology · 2016 · 3 citations
    10. Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2021 · 2 citations
    11. Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia Journal of dermatology · 2016 · 2 citations
    12. Advances in the genetic understanding of hypohidrotic ectodermal dysplasia Expert opinion on orphan drugs · 2017 · 1 citations
    13. Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum Pediatric Dermatology · 2026
    14. 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
    15. X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab Acta Dermato Venereologica · 2026
    16. Familial Pure Hair–Nail Ectodermal Dysplasia in Yemen: A Father–Son Case Report with Clinical Correlation Journal of Clinical and Investigative Dermatology · 2026
    17. An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia Cureus · 2024
    18. Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report Journal of Dermatological Treatment · 2024
    19. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia Genes · 2024
    20. ALX4-related frontonasal dysplasia sequence presenting with alopecia in a 12 year old girl The Sri Lanka Journal of Dermatology · 2023
    21. Photobiomodulation as a treatment in dogs with black hair follicular dysplasia Brazilian Journal of Animal and Environmental Research · 2023
    22. Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations 2022
    23. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    24. Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia 2009 · 42 citations
    25. A Homozygous Frameshift Mutation in the<i>HOXC13</i>Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family Human Mutation · 2013 · 30 citations
    26. 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
    27. A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report Journal of Paediatrics and Child Health · 2025
    28. A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family BMC Pregnancy and Childbirth · 2025
    29. Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation 2016
    30. Abstract 1835: Development of mammary hyperplasia, dysplasia, and invasive ductal carcinoma in transgenic mice expressing the 8p11 amplicon oncogene NSD3 (WHSC1L1) Cancer Research · 2017 · 1 citations