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"Shwachman-Diamond" syndrome 2
- ... Grinspan ZM, Pikora CA. Infections in patients with Shwachman-Diamond syndrome. Pediatr Infect Dis J. 2005 Feb;24(2):179-81. doi: 10.1097/01.inf.0000151042. ...
- ... mutations in the SBDS gene can also cause Shwachman-Diamond syndrome. The other common mutation, written as 183_184delTAinsCT, changes two nucleotides in the SBDS gene. This genetic change ...