Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

Author:

Niihori Tetsuya,Ouchi-Uchiyama Meri,Sasahara Yoji,Kaneko Takashi,Hashii Yoshiko,Irie Masahiro,Sato Atsushi,Saito-Nanjo Yuka,Funayama Ryo,Nagashima Takeshi,Inoue Shin-ichi,Nakayama Keiko,Ozono Keiichi,Kure Shigeo,Matsubara Yoichi,Imaizumi Masue,Aoki Yoko

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference32 articles.

1. Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome;Thompson;Br. J. Haematol.,2001

2. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation;Thompson;Nat. Genet.,2000

3. Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation;Castillo-Caro;J. Pediatr. Hematol. Oncol.,2010

4. A case of amegakaryocytic thrombocytopenia with radio-ulnar synostosis syndrome, successfully treated with allogeneic bone marrow transplantation;Sugita;Haematologica,2007

5. A case of congenital bone marrow failure with radio-ulnar synostosis;Yoshida;Int. J. Hematol.,2010

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