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一个家族集群中的两个儿科病例和遗传性扩散性胃癌:两个姐妹的故事
Lacey Falgout1, Lawrence L Gensler2
1Department of Medicine, Louisiana State University Health Sciences Center, New Orleans, LA.
ACG case reports journal
|July 21, 2023
概括
遗传性扩散性胃癌是一种罕见的儿科疾病,由于CDH1基因突变,两位姐妹和他们的父亲被诊断出患有这种疾病. 这凸显了为家族结环细胞癌进行基因检测的重要性.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 儿科医学 儿科医学
背景情况:
- 遗传性扩散性胃癌 (HDGC) 是一种自体主导性疾病.
- 它是由CDH1基因的突变引起的,该基因编码E-cadherin,这是一个关键的细胞粘附分子.
- 标签环细胞癌 (SRCC) 是特征性组织学,在儿童中很少见.
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