Shwachman Diamond syndrome SDS Exome sequencing

ABSTRACT: Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, leukemia predisposition, and skeletal abnormalities. We aim to characterise the structural effects of SDS in patients with this disorder by exome sequencing.

PROVIDER: EGAS00001000264 | EGA |

REPOSITORIES: EGA