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

Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is an inherited bone marrow failure syndrome, characterized by thrombocytopenia and congenital fusion of the radius and ulna. A heterozygous HOXA11 mutation has been identified in two unrelated families as a cause of RUSAT. However,...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4678429/
https://ncbi.nlm.nih.gov/pubmed/26581901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.10.010
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