Original paper
Chronic Pancytopenia and Increased Bone Density Due to TBXAS1 Deficiency
Abstract
Non-dysmorphic 32-year old Caucasian female developed malaise, fluctuating body aches and progressive transfusion-dependent pancytopenia with peripheral blood morphology consistent with myelodysplastic syndrome (MDS). Reportedly, she had an episode of "low blood counts" of unclear etiology 23 years prior. Multiple attempts at bone marrow biopsy were unsuccessful due to technical difficulties with penetrating the bone, necessitating surgical...
Paper Details
Title
Chronic Pancytopenia and Increased Bone Density Due to TBXAS1 Deficiency
Published Date
Dec 2, 2016
Journal
Volume
128
Issue
22
Pages
1503 - 1503
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Notes
History