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

Bibliographic Details
Main Authors: Jacqueline Yurkoski, Daniel Koboldt, Ethan Mezoff, William Burns, Bimal Chaudhari
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424003200