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, Thereza Cavalcanti, Darine Villela, Ana B. Pérez, David Valle, Elizabeth Wohler, Nara Sobreira, Salmo Raskin
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    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.
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