Study

Identifying causative mutations for Thrombocytopenia with Absent Radii

Study ID Alternative Stable ID Type
EGAS00001000054 Other

Study Description

Thrombocytopenia with Absent Radii is an inherited disorder that manifests itself with major limb skeletal abnormalities and low platelet count (and therefore a bleeding diathesis). The syndrome is well-characterised and defined phenotypically and there is a well-established database of UK-based families affected with ths disorder. The causative mutation for the disorder is yet to be identified. If known, it would allow for pre-natal screening and counselling avoiding life-long care for patients who are affected and are therefore severely disabled. We postulate that exon sequencing of 4 unrelated affected individuals would give enough power to narrow down potential candidate mutations which would thereafter be confirmed using DNA from other affected families.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001000018
Identifying causative mutations for Thrombocytopenia with Absent Radii
Illumina Genome Analyzer II 5

Who archives the data?

There are no publications available