Article
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis.
Orphanet journal of rare diseases - 7 May 2023
Wang Hongdan, Gao Yue, Qin Litao, Zhang Mengting, Shi Weili, Feng Zhanqi, Guo Liangjie, Zhu Bofeng, Liao Shixiu
Abstract excerpt
BACKGROUND: In the past decade, SETBP1 has attracted a lot of interest on that the same gene with different type or level (germline or somatic) of variants could provoke different pathologic consequences such as Schinzel-Giedon syndrome, SETBP1 Haploinsufficiency Disorder (SETBP1-HD) and myeloid malignancies. Whole exome sequencing was conducted to detect the etiology of a pregnant woman with mental retardation....
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