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Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.
Meeths M, Chiang SC, Wood SM, Entesarian M, Schlums H, Bang B, Nordenskjöld E, Björklund C, Jakovljevic G, Jazbec J, Hasle H, Holmqvist BM, Rajic L, Pfeifer S, Rosthøj S, Sabel M, Salmi TT, Stokland T, Winiarski J, Ljunggren HG, Fadeel B, Nordenskjöld M, Henter JI, Bryceson YT. Meeths M, et al. Among authors: fadeel b. Blood. 2011 Nov 24;118(22):5783-93. doi: 10.1182/blood-2011-07-369090. Epub 2011 Sep 19. Blood. 2011. PMID: 21931115 Free article.
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
Meeths M, Bryceson YT, Rudd E, Zheng C, Wood SM, Ramme K, Beutel K, Hasle H, Heilmann C, Hultenby K, Ljunggren HG, Fadeel B, Nordenskjöld M, Henter JI. Meeths M, et al. Among authors: fadeel b. Pediatr Blood Cancer. 2010 Apr;54(4):563-72. doi: 10.1002/pbc.22357. Pediatr Blood Cancer. 2010. PMID: 19953648
298 results