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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Pubblicato in:Am J Hum Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2015
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Accesso online: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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