Paris-Trousseau: evidence keeps pointing to FLI1.
In this issue of Blood, Stevenson et al describe a family with a homozygous missense mutation in FLI1 that is associated with a platelet phenotype identical to the one observed in Paris-Trousseau syndrome, supporting existing evidence that FLI1 is directly involved in the mechanism of thrombocytopenia observed in this disease.
UNIVERSITY OF COLORADO SCHOOL OF MEDICINE.
Jorge
J
Di Paola
D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D004247:DNA / Q000378:metabolism*; D005260:Female; D006801:Humans; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D051789:Proto-Oncogene Protein c-fli-1 / Q000235:genetics*
D051789:Proto-Oncogene Protein c-fli-1; D004247:DNA