http://www.medicalnewstoday.com/articles/134370.php
New Congenital Neutropenia Syndrome And Causative Gene Mutation Identified By Scientists
"Our discovery will help facilitate genetic diagnosis in this newly defined group of severe congenital neutropenia patients," said Christoph Klein, M.D., Ph.D., Hannover Medical School, the principal investigator of the study. "Knowledge about the underlying genetic defect is an important first step in developing a targeted therapy."
For more information on Shwachman-Diamond Syndrome, please see Shwachman-Diamond America
