Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids
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DOI: 10.1002/mgg3.1494
Abstract: Homozygous or compound heterozygous pathogenic variants in the thromboxane A synthase 1 (TBXAS1) gene are associated with Ghosal hematodiaphyseal dysplasia (GHDD) which is characterized by defective hematopoiesis and increased bone density of long bones. read more here.
Keywords: novel compound; compound heterozygous; hematodiaphyseal dysplasia; ghosal hematodiaphyseal ... See more keywords