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    Research 61–90 of 1000+

    1. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    2. 572 Defining chronic wound types in recessive dystrophic epidermolysis bullosa patients for clinical outcome assessment Journal of Investigative Dermatology · 2018 · 2 citations
    3. Mutation des menschlichen hairless -Gens bei Atrichia universalis Der Hautarzt · 1998 · 2 citations
    4. Short anagen hair syndrome is caused by mutations in the <i>WNT10A</i> gene and has a genetic overlap with male pattern hair loss British Journal of Dermatology · 2023
    5. A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu Genomics · 2006 · 18 citations
    6. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    7. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis 2006 · 74 citations
    8. Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. PubMed · 1997 · 27 citations
    9. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene British Journal of Dermatology · 2011 · 26 citations
    10. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
    11. 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
    12. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    13. 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population. PubMed · 2006 · 46 citations
    14. The character “hairless” in the mouse Journal of Genetics · 1931 · 35 citations
    15. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis Acta dermato-venereologica · 2020 · 18 citations
    16. Alopezien und Hypotrichosen im Kindesalter Der Hautarzt · 2014 · 5 citations
    17. Woolly Antics between the Sheaths Journal of Investigative Dermatology · 2009 · 1 citations
    18. Woolly hair generalizado: caso clínico e revisão da literatura Journal Archives of Health · 2024
    19. Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia ˜The œAmerican journal of pathology · 2000 · 179 citations
    20. Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat Differentiation · 2004 · 28 citations
    21. Reply Journal of Investigative Dermatology · 2000 · 1 citations
    22. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants Institutional Repositories DataBase (IRDB) · 2024
    23. Odd-Looking Hair and Progressive Alopecia in Mother and Son JAMA Dermatology · 2014
    24. Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair Nature genetics · 2008 · 210 citations
    25. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype Clinical Genetics · 2008 · 55 citations
    26. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis Frontiers in Medicine · 2025
    27. Alopecia Universalis Associated with a Mutation in the Human <i>hairless</i> Gene Science · 1998 · 412 citations
    28. 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells Journal of Investigative Dermatology · 2019 · 1 citations
    29. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    30. 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