You are here

Article info

Article menu
Download PDFPDF
Phenotypes
Original article
Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1

Authors

  • David W Sant ARUP Laboratories, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA PubMed articlesGoogle scholar articles
  • Rebecca L Margraf ARUP Laboratories, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA PubMed articlesGoogle scholar articles
  • David A Stevenson Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA Departments of Pediatrics, Division of Medical Genetics, University of Utah, School of Medicine, Salt Lake City, Utah, USA Shriners Hospital for Children Salt Lake City, Salt Lake City, Utah, USA PubMed articlesGoogle scholar articles
  • Allie H Grossmann ARUP Laboratories, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA Department of Pathology, University of Utah, School of Medicine, Salt Lake City, Utah, USA PubMed articlesGoogle scholar articles
  • David H Viskochil Departments of Pediatrics, Division of Medical Genetics, University of Utah, School of Medicine, Salt Lake City, Utah, USA PubMed articlesGoogle scholar articles
  • Heather Hanson Departments of Pediatrics, Division of Medical Genetics, University of Utah, School of Medicine, Salt Lake City, Utah, USA PubMed articlesGoogle scholar articles
  • Melanie D Everitt Departments of Pediatrics, Division of Medical Genetics, University of Utah, School of Medicine, Salt Lake City, Utah, USA PubMed articlesGoogle scholar articles
  • Jonathan J Rios Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas, USA Eugene McDermott Center for Human Growth and Development and UT Southwestern Medical Center, Dallas, Texas, USA Department of Orthopaedic Surgery, UT Southwestern Medical Center, Dallas, Texas, USA PubMed articlesGoogle scholar articles
  • Florent Elefteriou Vanderbilt Center for Bone Biology; Vanderbilt University Medical Center, Nashville, Tennessee, USA Departments of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA Departments of Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee, USA Department of Cancer Biology, Vanderbilt University Medical Center, Nashville, Tennessee, USA PubMed articlesGoogle scholar articles
  • Theresa Hennessey Shriners Hospital for Children Salt Lake City, Salt Lake City, Utah, USA PubMed articlesGoogle scholar articles
  • Rong Mao ARUP Laboratories, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA Department of Pathology, University of Utah, School of Medicine, Salt Lake City, Utah, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Rong Mao, Department of Pathology, University of Utah, ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, MS-115, Salt Lake City, UT 84108, USA; rong.mao{at}aruplab.com
View Full Text

Citation

Sant DW, Margraf RL, Stevenson DA, et al
Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1
Journal of Medical Genetics 2015;52:256-261.

Publication history

  • Received October 8, 2014
  • Revised December 4, 2014
  • Accepted December 18, 2014
  • First published January 22, 2015.
Online issue publication 
April 27, 2016

Article Versions

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Copyright information

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