Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia.

Abstract excerpt

We studied a family with a suspected diagnosis of MYH9-related disease, which is one of the most common forms of autosomal dominant macrothrombocytopenias associated with hearing impairment, cataracts and nephritis. No mutation of the MYH9 gene was identified. Moreover, the A156V variant of the G...

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