Intestinal atresias and intestinal failure in patients with TTC7A mutations

Intestinal atresias and intestinal failure in patients with TTC7A mutations

Mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene are associated with severe intestinal disorders and combined immunodeficiency (CID), with poor long-term survival. This study describes the characteristics and clinical course of six patients with intestinal failure who were found to h...

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Bibliographic Details
Main Authors: Katherine Culbreath, MD, Gregory Keefe, MD, Emily Nes, MD, Jamie Knell, MD, Sam M. Han, MD, Priyanka Chugh, MD, Grace Y. Han, BS, Alexandra N. Carey, MD, Lissette Jimenez, MD MPH, Jay R. Thiagarajah, MD PhD, Sung-Yun Pai, MD, Biren P. Modi, MD MPH, Tom Jaksic, MD PhD
Format: Article
Language:English
Published: Elsevier 2022-05-01
Series:Journal of Pediatric Surgery Case Reports
Subjects:
Intestinal atresia
Pyloric atresia
Severe combined immunodeficiency
Intestinal failure
Stem cell transplantation
Online Access:http://www.sciencedirect.com/science/article/pii/S2213576622000744

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http://www.sciencedirect.com/science/article/pii/S2213576622000744

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