Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies

    October 2023 in “ Journal of dermatological science
    Natarin Caengprasath, Mathilde Nizon, Ratchathorn Panchaprateep, Benjamin Cogné, Silvestre Cuinat, Hélène Auburt, Nathalie Jonca, Thantrira Porntaveetus, Vorasuk Shotelersuk
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    Studysummary This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
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