Intestinal atresias and intestinal failure in patients with TTC7A mutations

• Egile Nagusiak: Katherine Culbreath, MD (Egilea), Gregory Keefe, MD (Egilea), Emily Nes, MD (Egilea), Jamie Knell, MD (Egilea), Sam M. Han, MD (Egilea), Priyanka Chugh, MD (Egilea), Grace Y. Han, BS (Egilea), Alexandra N. Carey, MD (Egilea), Lissette Jimenez, MD MPH (Egilea), Jay R. Thiagarajah, MD PhD (Egilea), Sung-Yun Pai, MD (Egilea), Biren P. Modi, MD MPH (Egilea), Tom Jaksic, MD PhD (Egilea)
• Formatua: Liburua
• Argitaratua: Elsevier, 2022-05-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...