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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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב: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
פורמט: Artigo
שפה:Inglês
יצא לאור: Elsevier 2015
נושאים:
Report
גישה מקוונת: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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