Study
Identifying causative mutations for Thrombocytopenia with Absent Radii
Study ID | Alternative Stable ID | Type |
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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 |
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EGAD00001000018 |
Identifying causative mutations for Thrombocytopenia with Absent Radii
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Illumina Genome Analyzer II | 5 |
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