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Review
. 2020 Sep 14;41(9):762-765.
doi: 10.3760/cma.j.issn.0253-2727.2020.09.010.

[Congenital amegakaryocytic thrombocytopenia with inflammatory disease of ascending colon and ileocecum: a case report and literature review]

[Article in Chinese]
T Y Zhao  1 , M Chen  2
Affiliations
Review

[Congenital amegakaryocytic thrombocytopenia with inflammatory disease of ascending colon and ileocecum: a case report and literature review]

[Article in Chinese]
T Y Zhao et al. Zhonghua Xue Ye Xue Za Zhi. .
No abstract available

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Figures

图1
图1. 2017年11月结肠镜检查图像（升结肠巨大环周增殖性病变，表面巨大溃疡形成，累及回盲瓣）
图2
图2. 2018年1月PET/CT检查结果（回盲部及邻近升结肠壁厚，局部代谢增高，SUV值11.5）
图3
图3. 患者MPL基因复合杂合突变
A：患者MPL基因杂合突变c.127C>T（胞嘧啶>胸腺嘧啶），导致氨基酸改变p.R43*（精氨酸>终止），来自于患者父亲；B：患者MPL基因杂合突变c.23T>C（胸腺嘧啶>胞嘧啶），导致氨基酸改变p.M8T（甲硫氨酸>苏氨酸），c.23T>G（胸腺嘧啶>腺嘌呤），导致氨基酸改变p.M8R（甲硫氨酸>精氨酸），其中c.23T>G来自于患者母亲
图4
图4. 患者腹盆增强CT+小肠重建图像（升结肠肠壁弥漫增厚伴异常强化）
图5
图5. 2018年8月结肠镜检查图像（回盲部局部溃疡型病变，病变范围较前缩小，回盲部结构破坏、变形）
See this image and copyright information in PMC

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References

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