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Article

DIAPH1 Mutation as a Novel Cause of Autosomal Dominant Macrothrombocytopenia and Hearing Loss.

Acta haematologica - 1 Jan 2021

Karki Nabin Raj, Ajebo Germame, Savage Natasha, Kutlar Abdullah

Abstract excerpt

Macrothrombocytopenia (MTP) is a group of rare disorders characterized by giant platelets, thrombocytopenia, and variable association with abnormal bleeding. Inherited MTP are frequently misdiagnosed as immune thrombocytopenia. Associated second-organ manifestation can help narrow down syndromic MTPs. We describe a case of autosomal dominant sensorineural hearing loss and MTP caused by a gain of function mutation...

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PMID: 32594080
DOI: 10.1159/000506727

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