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Article

Mutation spectrum and genotype‐phenotype correlations in a large French cohort of <scp>MYH</scp>9‐Related Disorders

7 Feb 2014

Abstract excerpt

MYH9-Related Disorders are a group of rare autosomal dominant platelet disorders presenting as nonsyndromic forms characterized by macrothrombocytopenia with giant platelets and leukocyte inclusion bodies or as syndromic forms combining these hematological features with deafness and/or nephropathy and/or cataracts. They are caused by mutations in the MYH9 gene encoding the nonmuscle myosin heavy chain II-A...

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PMID: 25077172
DOI: 10.1002/mgg3.68

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Mutation spectrum and genotype‐phenotype correlations in a large French cohort of <scp>MYH</scp>9‐Related DisordersPMID 25077172Read ↗

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A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations.Semantic proximity Read ↗

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MYH9-Related Platelet DisordersSemantic proximity Read ↗

A rare case of MYH9 disorders presenting with macrothrombocytopenia and deafness caused by MYH9-R702C mutation.Semantic proximity Read ↗

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