A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation

    December 2010 in “ Journal of human genetics ”
    Junko Nakayama, Naoko Iwasaki, Kenji Shin … Tadao Arinami
    Studysummary This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Read the full study on nature.com →
    Discuss this study in the Community →

    Research cited in this study 1

    1. Ichthyosis Follicularis With Alopecia and Photophobia Archives of dermatology · 1985

    Related research 3

    1. Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature 2020
    2. Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome Treated With Acitretin JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology · 2005
    3. Ichthyosis Follicularis With Alopecia and Photophobia Archives of dermatology · 1985