Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis

    August 2022 in “ ˜The œItalian Journal of Pediatrics/Italian journal of pediatrics ”
    Gregorio Serra, Luigi Memo, Paola Cavicchioli … Giovanni Corsello
    Studysummary This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
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    Research cited in this study 6

    1. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020
    2. Management of Congenital Ichthyoses: European Guidelines of Care, Part Two British Journal of Dermatology · 2018
    3. A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family European journal of dermatology/EJD. European journal of dermatology · 2018
    4. Inherited Ichthyosis: Syndromic Forms Journal of dermatology · 2016
    5. Care of the Newborn with Ichthyosis Dermatologic Therapy · 2013
    6. Keratin Gene Mutations in Disorders of Human Skin and Its Appendages Archives of Biochemistry and Biophysics · 2010