Original paper

Chronic steroid‐response pancytopenia and increased bone density due to thromboxane synthase deficiency

Volume: 65, Issue: 1
Published: Sep 4, 2017
Abstract
Diagnosis of bone marrow failure (BMF) disorders is challenging but essential for optimal patient management. Here, we report a young adult from nonconsanguineous parents with progressive pancytopenia since childhood, bone pain, increased bone density, and haphazard ossification replacing hematopoiesis within the bone marrow. Sequencing revealed two novel biallelic variants of unknown significance within the thromboxane A synthase gene, TBXAS1...
Paper Details
Title
Chronic steroid‐response pancytopenia and increased bone density due to thromboxane synthase deficiency
Published Date
Sep 4, 2017
Volume
65
Issue
1
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