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Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").
Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debré M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G. Pachlopnik Schmid J, et al. Among authors: durandy a. J Exp Med. 2012 Dec 17;209(13):2323-30. doi: 10.1084/jem.20121303. Epub 2012 Dec 10. J Exp Med. 2012. PMID: 23230001 Free PMC article.
Combined immunodeficiency with abnormal expression of MHC class II genes.
Griscelli C, Lisowska-Grospierre B, Le Deist F, Durandy A, Marcadet A, Fischer A, de Preval C, Mach B. Griscelli C, et al. Among authors: durandy a. Clin Immunol Immunopathol. 1989 Jan;50(1 Pt 2):S140-8. doi: 10.1016/0090-1229(89)90121-9. Clin Immunol Immunopathol. 1989. PMID: 2463126
241 results