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pro vyhledávání: '"Jay R. Thiagarajah, MD PhD"'
Autor:
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
Publikováno v:
Journal of Pediatric Surgery Case Reports, Vol 80, Iss , Pp 102247- (2022)
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 pa
Externí odkaz:
https://doaj.org/article/ac3ccdf5645d48cf947a7fbd7063ea1b