Report of a young girl with MYH9 mutation and review of the literature.
dc.contributor.author | Landi, Daniel | |
dc.contributor.author | Lockhart, Evelyn | |
dc.contributor.author | Miller, Sara E | |
dc.contributor.author | Datto, Michael | |
dc.contributor.author | Rehder, Catherine | |
dc.contributor.author | Kanaly, Angela | |
dc.contributor.author | Thornburg, Courtney D | |
dc.date.accessioned | 2021-12-15T17:47:10Z | |
dc.date.available | 2021-12-15T17:47:10Z | |
dc.date.issued | 2012-10 | |
dc.date.updated | 2021-12-15T17:47:09Z | |
dc.description.abstract | MYH9 mutations cause the inherited macro-thrombocytopenic syndromes of May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, collectively referred to as MYH9-related disease. We present the case of a girl with MYH9-related disease whose diagnosis was facilitated by platelet electron microscopy and MYH9 sequencing. We discuss our patient's clinical presentation, now with 12 years of follow-up. We also discuss management and her possible prognosis given her specific MYH9 mutation. | |
dc.identifier | 00043426-201210000-00012 | |
dc.identifier.issn | 1077-4114 | |
dc.identifier.issn | 1536-3678 | |
dc.identifier.uri | ||
dc.language | eng | |
dc.publisher | Ovid Technologies (Wolters Kluwer Health) | |
dc.relation.ispartof | Journal of pediatric hematology/oncology | |
dc.relation.isversionof | 10.1097/mph.0b013e3182678fc9 | |
dc.subject | Humans | |
dc.subject | Hearing Loss, Sensorineural | |
dc.subject | Cerebral Infarction | |
dc.subject | Nephritis, Hereditary | |
dc.subject | Thrombocytopenia | |
dc.subject | Myosin Heavy Chains | |
dc.subject | Mutation | |
dc.subject | Child, Preschool | |
dc.subject | Female | |
dc.subject | Molecular Motor Proteins | |
dc.title | Report of a young girl with MYH9 mutation and review of the literature. | |
dc.type | Journal article | |
duke.contributor.orcid | Landi, Daniel|0000-0002-1487-1136 | |
pubs.begin-page | 538 | |
pubs.end-page | 540 | |
pubs.issue | 7 | |
pubs.organisational-group | School of Medicine | |
pubs.organisational-group | Duke Cancer Institute | |
pubs.organisational-group | Pathology | |
pubs.organisational-group | Duke | |
pubs.organisational-group | Institutes and Centers | |
pubs.organisational-group | Clinical Science Departments | |
pubs.organisational-group | Pediatrics, Hematology-Oncology | |
pubs.organisational-group | Pediatrics | |
pubs.organisational-group | Faculty | |
pubs.publication-status | Published | |
pubs.volume | 34 |
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