Syndromic or Non-Syndromic Congenital Ichthyosis? A Case Report of Two Brothers with Ichthyosis but Microphthalmia and Blindness in Only One Brother

    January 2024 in “ SAGE Open Medical Case Reports
    Rachel Aubry, A. Micheil Innes, Richard M. Haber
    Studysummary In this study, exome sequencing revealed that two brothers with ichthyosis, born to consanguineous parents, had NIPAL4 autosomal recessive congenital ichthyosis, while the older brother's blindness resulted from separate mutations in the peroxidasin gene, which were also found in an unaffected sister.
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