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Printable version |
IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel
MBTPS2 mutation in a Polish patient |
European Journal of Dermatology. Volume 22, Number 4, 467-72, July-August 2012, Genes and skin
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Résumé
Full Text
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Author(s) : Aldona Pietrzak, Jean Kanitakis, Grzegorz Staśkiewicz, Agnieszka Sobczyńska-Tomaszewska, Ewa Dybiec, Justyna Szumiło, Grzegorz Kandzierski, Bartłomiej Wawrzycki, Grażyna Chodorowska |
Summary : |
Keywords : Atrichia, Ichthyosis follicularis, Photophobia, IFAP,
MBTPS2, Chorea |
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