Article
Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.
British journal of haematology - 1 Sept 2010
Lasne Dominique, Baujat Geneviève, Mirault Tristan, Lunardi Joël, Grelac Françoise, Egot Marion, Salomon Rémi, Bachelot-Loza Christilla
Abstract excerpt
Lowe syndrome (LS) is a rare X-linked disorder caused by mutations in the oculocerebrorenal gene (OCRL), encoding OCRL, a phosphatidylinositol 5-phosphatase with a RhoGAP domain. An abnormal rate of haemorrhagic events was found in a retrospective clinical survey. Herein, we report the results of exploration of haemostasis in six LS patients. All patients had normal coagulation tests but prolonged closure times...
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