Study

Shwachman Diamond syndrome SDS Exome sequencing

Study ID Alternative Stable ID Type
EGAS00001000264 Other

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001000847
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

Who archives the data?

There are no publications available