Shwachman Diamond syndrome SDS Exome sequencing
|Study ID||Alternative Stable ID||Type|
Study Datasets 1 dataset.
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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.
|Illumina HiSeq 2000||2|