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    A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2

    January 2023 in “ Revista Paulista de Pediatria
    Michele Patricia Migliavacca, Rodrigo Ambrósio Fock, Nadia Almeida … Salmo Raskin
    Studysummary This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with 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
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    Research cited in this study 1

    1. Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome Orphanet Journal of Rare Diseases · 2011