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The New England Journal of Medicine, ISSN 0028-4793, 07/2015, Volume 373, Issue 3, pp. 220 - 231
Journal Article
Molecular diagnosis & therapy, 04/2019, Volume 23, Issue 2, p. 281
Shwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. However, it has... 
Journal Article
Journal Article
Journal Article
British Journal of Haematology, ISSN 0007-1048, 07/2018, Volume 182, Issue 1, pp. 114 - 124
Journal Article
JAMA, ISSN 0098-7484, 09/2009, Volume 302, Issue 10, pp. 1076 - 1083
Journal Article
BMJ Open, ISSN 2044-6055, 01/2019, Volume 9, Issue 1, pp. e022617 - e022617
ObjectivesShwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder. Its predominant manifestations include exocrine pancreatic insufficiency,... 
growth charts | Shwachman-diamond syndrome | genetics | Body mass index | Genetic disorders | Cognitive ability | Bone marrow | Software | Down syndrome | Mutation | Patients | Age
Journal Article