Journal of the Formosan Medical Association
Volume 108, Issue 10 , Pages 803-807 , October 2009

PTPN11 Mutations in LEOPARD Syndrome: Report of Four Cases in Taiwan

  • I-Shou Lin

      Affiliations

    • Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan
    • ,
  • Jieh-Neng Wang

      Affiliations

    • Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan
    • ,
  • Sheau-Chiou Chao

      Affiliations

    • Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan
    • ,
  • Jing-Ming Wu

      Affiliations

    • Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan
    • ,
  • Shio-Jean Lin

      Affiliations

    • Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Shio-Jean Lin, Department of Pediatrics, National Cheng Kung University Hospital, 138 Sheng Li Road, Tainan 704, Taiwan

Received 17 November 2008 ,Revised 6 February 2009 ,Accepted 10 April 2009.

References 

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  10. Woywodt A , Welzel J , Haase H , et al.   Cardiomyopathic lentiginosis/LEOPARD syndrome presenting as sudden cardiac arrest . Chest . 1998;113:1415–1417
  11. Limongelli G , Pacileo G , Calabro R . Is sudden cardiac death predictable in LEOPARD syndrome? . Cardiol Young . 2006;16:599–601
  12. Chong WS , Klanwarin W , Giam YC . Generalized lentiginosis in two children lacking systemic associations: case report and review of the literature . Pediatr Dermatol . 2004;21:139–145
  13. Colomb D , Morel JP . Multiple lentigines syndrome. Apropos of 2 cases. Critical study of the leopard syndrome . Ann Dermatol Venereol . 1984;111:371–381 [In French]
  14. Tartaglia M , Martinelli S , Stella L , et al.   Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease . Am J Hum Genet . 2006;78:279–290
  15. Tartaglia M , Niemeyer CM , Fragale A , et al.   Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia . Nat Genet . 2003;34:148–150

PII: S0929-6646(09)60408-3

doi: 10.1016/S0929-6646(09)60408-3

Journal of the Formosan Medical Association
Volume 108, Issue 10 , Pages 803-807 , October 2009

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