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

Publication ,  Journal Article
Landi, D; Lockhart, E; Miller, SE; Datto, M; Rehder, C; Kanaly, A; Thornburg, CD
Published in: J Pediatr Hematol Oncol
October 2012

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.

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Published In

J Pediatr Hematol Oncol

DOI

EISSN

1536-3678

Publication Date

October 2012

Volume

34

Issue

7

Start / End Page

538 / 540

Location

United States

Related Subject Headings

  • Thrombocytopenia
  • Oncology & Carcinogenesis
  • Nephritis, Hereditary
  • Myosin Heavy Chains
  • Mutation
  • Molecular Motor Proteins
  • Humans
  • Hearing Loss, Sensorineural
  • Female
  • Child, Preschool
 

Citation

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Landi, D., Lockhart, E., Miller, S. E., Datto, M., Rehder, C., Kanaly, A., & Thornburg, C. D. (2012). Report of a young girl with MYH9 mutation and review of the literature. J Pediatr Hematol Oncol, 34(7), 538–540. https://doi.org/10.1097/MPH.0b013e3182678fc9
Landi, Daniel, Evelyn Lockhart, Sara E. Miller, Michael Datto, Catherine Rehder, Angela Kanaly, and Courtney D. Thornburg. “Report of a young girl with MYH9 mutation and review of the literature.J Pediatr Hematol Oncol 34, no. 7 (October 2012): 538–40. https://doi.org/10.1097/MPH.0b013e3182678fc9.
Landi D, Lockhart E, Miller SE, Datto M, Rehder C, Kanaly A, et al. Report of a young girl with MYH9 mutation and review of the literature. J Pediatr Hematol Oncol. 2012 Oct;34(7):538–40.
Landi, Daniel, et al. “Report of a young girl with MYH9 mutation and review of the literature.J Pediatr Hematol Oncol, vol. 34, no. 7, Oct. 2012, pp. 538–40. Pubmed, doi:10.1097/MPH.0b013e3182678fc9.
Landi D, Lockhart E, Miller SE, Datto M, Rehder C, Kanaly A, Thornburg CD. Report of a young girl with MYH9 mutation and review of the literature. J Pediatr Hematol Oncol. 2012 Oct;34(7):538–540.

Published In

J Pediatr Hematol Oncol

DOI

EISSN

1536-3678

Publication Date

October 2012

Volume

34

Issue

7

Start / End Page

538 / 540

Location

United States

Related Subject Headings

  • Thrombocytopenia
  • Oncology & Carcinogenesis
  • Nephritis, Hereditary
  • Myosin Heavy Chains
  • Mutation
  • Molecular Motor Proteins
  • Humans
  • Hearing Loss, Sensorineural
  • Female
  • Child, Preschool