A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.
Michele Patricia MigliavaccaRodrigo Ambrosio FockNadia AlmeidaThereza CavalcantiDarine VillelaAna Beatriz Alvarez PerezDavid ValleElizabeth S WohlerNara Lygia de Macena SobreiraSalmo RaskinPublished in: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo (2023)
This is the first diagnosis of IFAP syndrome in Brazil with a molecular investigation. The present case study thus expands our knowledge on the mutational spectrum of MBPTS2 associated with IFAP syndrome.
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