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    Research 31–60 of 1000+

    1. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    2. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    3. Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu <i>LMNA</i> mutation and in their asymptomatic heterozygotic mothers Journal of Clinical Pathology · 2013 · 2 citations
    4. Modification of hair dysplasia curve by radioprotectors containg sulfur as a function of the x-ray dose. PubMed · 1968 · 2 citations
    5. Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report Clinical Case Reports · 2026
    6. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026
    7. Ectodermal Dysplasia: Variable Expressions Indian Journal of Dermatology · 2025
    8. Lichen Planopilaris with Pili Torti and Ectodermal Dysplasia: a hair curling case report. Case Reports in Dermatology · 2025
    9. 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
    10. A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome Indian dermatology online journal · 2023
    11. Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia Dermatology Online Journal · 2021
    12. 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly 2019
    13. A direct link between<i>Prss53</i>, hair curvature, and skeletal dysplasia bioRxiv (Cold Spring Harbor Laboratory) · 2019
    14. 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR Journal of Investigative Dermatology · 2016
    15. Hair dysplasias 2015
    16. Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII Helda (University of Helsinki) · 2013
    17. INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS 2008
    18. 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
    19. Molecular basis of hypohidrotic ectodermal dysplasia: an update Journal of Applied Genetics · 2015 · 85 citations
    20. Ectoderm-Targeted Overexpression of the Glucocorticoid Receptor Induces Hypohidrotic Ectodermal Dysplasia Endocrinology · 2005 · 46 citations
    21. Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia American Journal of Medical Genetics · 2014 · 35 citations
    22. Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease Annals of Internal Medicine · 1971 · 32 citations
    23. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements Journal of Human Genetics · 2016 · 30 citations
    24. Black Hair Follicular Dysplasia in Black and White Saluki Dogs: Differentiation from Color Mutant Alopecia in the Doberman Pinscher by Microscopic Examination of Hairs Veterinary Dermatology · 1991 · 28 citations
    25. Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Dermatology · 1997 · 20 citations
    26. Hair Shaft Dysplasias International Journal of Dermatology · 1988 · 19 citations
    27. 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
    28. 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
    29. Topical minoxidil treatment for congenital alopecia in hypohidrotic ectodermal dysplasia 2013 · 12 citations
    30. A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome? Clinical Dysmorphology · 1995 · 9 citations