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    1. The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling and Therapy Medical Entomology and Zoology · 1989 · 179 citations
    2. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    3. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001 · 130 citations
    4. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    5. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    6. Care of the newborn with ichthyosis Dermatologic Therapy · 2013 · 49 citations
    7. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    8. 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
    9. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    10. 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
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