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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Библиографические подробности
Опубликовано в: :Am J Hum Genet
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2015
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Report
Online-ссылка: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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