Article

Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion

2024-03-09

Abstract excerpt

Bernard-Soulier syndrome (BSS) is caused by defects in GP1BA , GP1BB , or GP9 genes. Patients with 22q11.2 deletion syndrome (22q11.2DS) are obligate carriers for BSS because GP1BB resides on chromosome 22q11.2. A 15-month-old girl without bleeding symptoms had giant platelets and thrombocytopenia. Physical findings and macrothrombocytopenia suggested 22q11.2DS, which was confirmed by fluorescence in situ hybr...

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Literature Corpus work: 6d7f7d95-c977-5480-9132-81e14933ee84
DOI: 10.22541/au.170994865.56664598/v1

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