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    Research 10 of 808

    1. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    2. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    3. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype Clinical Genetics · 2008 · 55 citations
    4. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    5. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities Archives of dermatological research · 2017 · 3 citations
    6. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome 2002 · 152 citations
    7. The Fate of Epidermal Tight Junctions in the stratum corneum: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions International Journal of Molecular Sciences · 2022 · 11 citations
    8. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    9. The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i> JAMA dermatology · 2014 · 22 citations
    10. Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family Acta Scientific Paediatrics · 2023
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