Cockayne syndrome

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.

Thrombocytopenia

A reduction in the number of circulating thrombocytes.


Total: 1

                       


(per page)
PMID (PMCID)
19760648
 MIXED_SAMPLE Child
A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome.
Forsythe E, Wild R, Sellick G, Houlston RS, Lehmann AR, Wakeling E.
Am J Med Genet A. 2009;149A(10):2075-9.
A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome.