P278: Severe secretory diarrhea investigated by genome sequencing and RNA-seq yields ultrarare diagnosis of trichohepatoenteric syndrome (THES)

Autor: Jacqueline Yurkoski, Daniel Koboldt, Ethan Mezoff, William Burns, Bimal Chaudhari
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Genetics in Medicine Open, Vol 2, Iss , Pp 101174- (2024)
Druh dokumentu: article
ISSN: 2949-7744
DOI: 10.1016/j.gimo.2024.101174
Databáze: Directory of Open Access Journals