A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia
A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia
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Publisher
England: John Wiley & Sons, Inc
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Language
English
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Publisher
England: John Wiley & Sons, Inc
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Contents
Key Clinical Message.
A 15‐year‐old girl developed inherited cardiomyopathy and macrothrombocytopenia revealing pathogenic variants of both MYH7 and MYH9 genes. This underlies the importance of repeated genetic testing in diagnosing and managing inherited disorders.
The MYH7 and MYH9 genes encode for distinct myosin heavy chain proteins. Our...
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Full title
A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia
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TN_cdi_doaj_primary_oai_doaj_org_article_78fb3686179c4d188c65dfb64d92030f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_78fb3686179c4d188c65dfb64d92030f
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ISSN
2050-0904
E-ISSN
2050-0904
DOI
10.1002/ccr3.8304
