Výsledky vyhledávání - "Duowen Huang"

Akademický článek

A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia

Autor: Duowen Huang, Mingyan Jiang, Yiping Zhu, Dongjun Li, Xiaoxi Lu, Ju Gao

Publikováno v: BMC Pediatrics, Vol 24, Iss 1, Pp 1-6 (2024)

Abstract Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) type 2, caused by MDS1 and EVI1 complex locus (MECOM) gene mutations, is a rare inherited bone marrow failure syndrome (IBMFS) with skeletal anomalies, characterized by vary

Externí odkaz: https://doaj.org/article/3cd23bedd0e34238ac949dd28c0cd7c5

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Akademický článek

A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia.

Autor: Huang, Duowen, Jiang, Mingyan, Zhu, Yiping, Li, Dongjun, Lu, Xiaoxi, Gao, Ju

Publikováno v: BMC Pediatrics; 1/20/2024, Vol. 24 Issue 1, p1-6, 6p

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Periodical

West China Second University Hospital Researchers Target Synostosis (A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia).

Publikováno v: Hematology Week; 2/5/2024, p515-515, 1p

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