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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease h syndrome
Comorbidity C0040034|thrombocytopenia
Sentences 3
PubMedID- 25931402 Wiskott-aldrich syndrome/x-linked thrombocytopenia in china: clinical characteristic and genotype-phenotype correlation.
PubMedID- 20130240 Nk cells derived from patients with wiskott-aldrich syndrome/x-linked thrombocytopenia (was/xlt), carrying different mutations in the wasp coding gene, displayed reduced migration through intercellular adhesion molecule-1 (icam-1), vascular cell adhesion molecule-1 (vcam-1), or endothelial cells in response to cxcl12/stromal cell-derived factor-1 and cx3cl1/fractalkine.
PubMedID- 24069336 Of this subgroup, some thrombocytopenia forms are associated with syndrome features that are suggestive of their underlying causative genes.

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