一个中国佩-吉二氏综合征家系的临床特征及基因突变的基因分析
Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz-Jeghers syndrome.
作者信息
Qiu Yudian, Xuan Tao, Yin Mujun, Gao Zhidong, Guo Peng, Chen Xi, Ye Yingjiang, Shen Zhanlong
机构信息
Peking University People's Hospital Beijing China.
Geneplus Co. Ltd Beijing China.
出版信息
Clin Case Rep. 2019 Mar 3;7(4):735-739. doi: 10.1002/ccr3.2073. eCollection 2019 Apr.
Abstract
The genome-wide sequencing information of PJS is still lacking. Our result demonstrates that c.862+2T>C variant on STK11 as an important foundation of molecular mechanism in this familial PJS. Variants in KDR and MLL3 may play important roles in the initiation and development of this familial PJS polyps.
摘要
黑斑息肉综合征（PJS）的全基因组测序信息仍然缺乏。我们的结果表明，STK11基因上的c.862+2T>C变异是这个家族性PJS分子机制的重要基础。KDR和MLL3基因的变异可能在这个家族性PJS息肉的发生和发展中起重要作用。
Zotero 插件