Research Article

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val†‡

  1. Emma M.M. Burkitt-Wright1,
  2. Lisa Bradley2,
  3. Jennifer Shorto1,
  4. Vivienne P.M. McConnell2,
  5. Caroline Gannon3,
  6. Helen V. Firth4,
  7. Soo-Mi Park4,
  8. Angela D'Amore5,
  9. Paul F. Munyard6,
  10. Peter D. Turnpenny7,
  11. Amanda Charlton8,
  12. Meredith Wilson9,
  13. Bronwyn Kerr1,*

Article first published online: 11 APR 2012

DOI: 10.1002/ajmg.a.35296

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 158A, Issue 5, pages 1102–1110, May 2012

Additional Information

How to Cite

Burkitt-Wright, E. M.M., Bradley, L., Shorto, J., McConnell, V. P.M., Gannon, C., Firth, H. V., Park, S.-M., D'Amore, A., Munyard, P. F., Turnpenny, P. D., Charlton, A., Wilson, M. and Kerr, B. (2012), Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val. Am. J. Med. Genet., 158A: 1102–1110. doi: 10.1002/ajmg.a.35296

Author Information

  1. 1

    Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK

  2. 2

    Northern Ireland Regional Genetics Service, Belfast, UK

  3. 3

    Department of Pathology, Royal Belfast Hospitals, Belfast, UK

  4. 4

    Department of Clinical Genetics, East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK

  5. 5

    Department of Neonatology, Addenbrooke's Hospital, Cambridge, UK

  6. 6

    Department of Pediatrics, Royal Cornwall Hospital, Truro, UK

  7. 7

    Clinical Genetics Department, Royal Devon & Exeter Hospital, Exeter, UK

  8. 8

    Department of Pediatric Pathology, Children's Hospital at Westmead, Sydney, New South Wales, Australia

  9. 9

    Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, New South Wales, Australia

*Genetic Medicine, 6th Floor St Mary's Hospital, Central Manchester Foundation Trust, Oxford Road, Manchester M13 9WL, UK.

  1. †

    How to Cite this Article: Burkitt-Wright EMM, Bradley L, Shorto J, McConnell VPM, Gannon C, Firth HV, Park S-M, D'Amore A, Munyard PF, Turnpenny PD, Charlton A, Wilson M, Kerr B. 2012. Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val. Am J Med Genet Part A. 158A:1102–1110.

  2. ‡

    The authors have no competing interests to declare.

Publication History

  1. Issue published online: 18 APR 2012
  2. Article first published online: 11 APR 2012
  3. Manuscript Accepted: 29 DEC 2011
  4. Manuscript Received: 18 OCT 2011

Funded by

  • Wellcome trust
  • UK National Institute for Health Research's Manchester Biomedical Research Centre

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