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Autor:
M. Kh. Gurzhikhanova, G. I. Shestopalov, M. S. Vasilyeva, U. N. Petrova, K. S. Antonova, D. V. Fedorova, N. N. Kotskaya, S. A. Radygina, L. B. Lubsanova, E. K. Donyush, O. S. Fink, E. A. Pristanskova, E. V. Skorobogatova, A. V. Pavlova, M. A. Kurnikova, E. V. Suntsova
Publikováno v:
Pediatric Hematology/Oncology and Immunopathology. 21:65-76
Mutations in the MECOM gene (MDS1 and EVI1 complex locus) may be one of the causes of a rare combination of congenital radioulnar synostosis resulting in extremely limited forearm pronation and supination, and amegakaryocytic thrombocytopenia. The cl