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

• Jacqueline Yurkoski,
• Daniel Koboldt,
• Ethan Mezoff,
• William Burns,
• Bimal Chaudhari

Affiliations

Jacqueline Yurkoski

Nationwide Children's Hospital Division of Genetics and Genomic Medicine, The Ohio State University College of Medicine Department of Pediatrics

Daniel Koboldt

Nationwide Children's Hospital Steve and Cindy Rasmussen Institute for Genomic Medicine, The Ohio State University College of Medicine Department of Pediatrics

Ethan Mezoff

Nationwide Children's Hospital Division of Gastroenterology, Hepatology and Nutrition, The Ohio State University College of Medicine Department of Pediatrics

William Burns

Greenwood Genetic Center

Bimal Chaudhari

Nationwide Children's Hospital Steve and Cindy Rasmussen Institute for Genomic Medicine and Divisions of Neonatology and Genetics and Genomic Medicine, The Ohio State University College of Medicine Departments of Pediatrics and Biomedical Informatics