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Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis

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 mal...

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Detalles Bibliográficos
Autores principales:	Wang, Hongdan, Gao, Yue, Qin, Litao, Zhang, Mengting, Shi, Weili, Feng, Zhanqi, Guo, Liangjie, Zhu, Bofeng, Liao, Shixiu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10165755/ https://www.ncbi.nlm.nih.gov/pubmed/37150818 http://dx.doi.org/10.1186/s13023-023-02705-6

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