Ghosal Hematodiaphyseal Dysplasia: A Case Report With Review of Genetically Confirmed Cases.

Abstract excerpt

BACKGROUND: Ghosal hematodiaphyseal dysplasia syndrome (GHDS) is a rare disorder caused by loss-of-function mutations in thromboxane A synthase 1 ( TBXAS1 ). OBSERVATION: A 5-year-old girl was evaluated for chronic anemia (Hb 6 g/dL), elevated C-reactive protein (38.9 mg/L) and increased erythrocyte sedimentation rate (80 mm/h). Whole-exome sequencing identified a homozygous pathogenic variant, c.1417G>T...

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