A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

    January 2022 in “ Annals of Dermatology
    Jun‐Oh Shin, Dongyoung Roh, Kihyuk Shin, Woo‐Il Kim, Min‐Young Yang, Won‐Ku Lee, Hoon‐Soo Kim, Byung Soo Kim, Moon‐Bum Kim, Hyun‐Chang Ko
    Studysummary In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
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