- Author:
Ying HUANG
1
;
Zi-qing YE
1
Author Information
- Publication Type:Journal Article
- Keywords: congenital diarrhea and enteropathies; monogenic diseases; gene detection; precision medicine
- From: Chinese Journal of Practical Pediatrics 2019;34(11):892-895
- CountryChina
- Language:Chinese
- Abstract: Congenital diarrhea and enteropathies(CODEs)are typically monogenic disorders. Patients always present with persistent and severe chronic diarrhea. The diagnosis of CODEs is oftern delayed and there is a high mortality. Application of endoscopy,histologic evaluation and next generation sequencing might facilitate the diagnosis,and precision medicine to patients with CODEs.