A Case of IFAP Syndrome with Severe Atopic Dermatitis

    January 2015 in “ Case reports in medicine
    Catarina Araújo, Miguel Gonçalves-Rocha, Cristina Resende, Ana Paula Vieira, Celeste Brito
    Studysummary In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
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