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  • Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

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Genotype-phenotype correlations
Original article
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

Authors

  • Emma MM Burkitt Wright Genetic Medicine Research Group, Faculty of Medical and Human Sciences, Institute of Human Development, University of Manchester, Manchester, UK Department of Genetic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • Emma Sach Department of Genetic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • Saba Sharif West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK PubMed articlesGoogle scholar articles
  • Oliver Quarrell Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK PubMed articlesGoogle scholar articles
  • Thomas Carroll Department of Neurosurgery, Royal Hallamshire Hospital, Sheffield, UK PubMed articlesGoogle scholar articles
  • Richard W Whitehouse Department of Radiology, Manchester Royal Infirmary, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • Meena Upadhyaya Department of Medical Genetics, Cardiff University School of Medicine, Institute of Medical Genetics Building, Cardiff, UK PubMed articlesGoogle scholar articles
  • Susan M Huson Genetic Medicine Research Group, Faculty of Medical and Human Sciences, Institute of Human Development, University of Manchester, Manchester, UK Department of Genetic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  • D Gareth R Evans Genetic Medicine Research Group, Faculty of Medical and Human Sciences, Institute of Human Development, University of Manchester, Manchester, UK Department of Genetic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Professor D Gareth R Evans, Department of Genetic Medicine, St Mary's Hospital, Oxford Road, Manchester M13 9WL, UK; gareth.evans{at}cmft.nhs.uk
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Citation

Burkitt Wright EM, Sach E, Sharif S, et al
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis
Journal of Medical Genetics 2013;50:606-613.

Publication history

  • Received March 6, 2013
  • Revised May 25, 2013
  • Accepted May 28, 2013
  • First published June 28, 2013.
Online issue publication 
July 30, 2016

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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 3.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/3.0/