病例报告:严重的胃缩与LRBA中的新型同卵性变异相关

Shilin Yuan1, Ting Li1, Yu Tong2

  • 1Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Department of Gastroenterology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

Frontiers in pediatrics
|December 11, 2025
PubMed
概括

lipopolysaccharide-responsive 色类似蛋白 (LRBA) 基因中的一种罕见的同卵性突变导致了儿科患者的严重缩性胃炎. 这一案例突出了儿童LRBA缺乏和严重胃缩的独特表型.