Three patients with new mutations in the EPCAM variant gene for congenital tufting enteropathy and a mutation review in China: a case report.
Sheng-Nan WangYu-Juan FuXiao-Lan LuShi-Jian MiaoPing ZhangLin WangYing HuangYu-Huan Wang
Published in: Translational pediatrics (2024)
CTE is rare and fatal, and lacks characteristic changes during endoscopy. Patients with CTE require early diagnosis via histological examination and genetic detection to improve survival.