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  • Title: Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.
    Author: Izumi K, Wilkens A, Treat JR, Pride HB, Krantz ID.
    Journal: Pediatr Dermatol; 2013; 30(6):e263-4. PubMed ID: 23551428.
    Abstract:
    Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is an X-linked dominant condition characterized by the triad of ichthyosis follicularis, alopecia, and photophobia caused by mutations in the MBTPS2 gene. Herein we describe a proband with IFAP syndrome with mild cutaneous manifestations and a novel MBTPS2 mutation in the N-terminal transmembrane domain.
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