Report of a young girl with MYH9 mutation and review of the literature.

dc.contributor.author

Landi, Daniel

dc.contributor.author

Lockhart, Evelyn

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Miller, Sara E

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Datto, Michael

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Rehder, Catherine

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Kanaly, Angela

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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

https://hdl.handle.net/10161/24075

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

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Hearing Loss, Sensorineural

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Cerebral Infarction

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Nephritis, Hereditary

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Thrombocytopenia

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Myosin Heavy Chains

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Mutation

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Child, Preschool

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Female

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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

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Duke Cancer Institute

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Pathology

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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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