Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848

Koczkowska, M., Chen, Y., Callens, T. et al. (72 more authors) (2018) Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. American Journal of Human Genetics, 102 (1). pp. 69-87. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • Koczkowska, M.
  • Chen, Y.
  • Callens, T.
  • Gomes, A.
  • Sharp, A.
  • Johnson, S.
  • Hsiao, M.-C.
  • Chen, Z.
  • Balasubramanian, M. https://orcid.org/0000-0003-1488-3695
  • Barnett, C.P.
  • Becker, T.A.
  • Ben-Shachar, S.
  • Bertola, D.R.
  • Blakeley, J.O.
  • Burkitt-Wright, E.M.M.
  • Callaway, A.
  • Crenshaw, M.
  • Cunha, K.S.
  • Cunningham, M.
  • D'Agostino, M.D.
  • Dahan, K.
  • De Luca, A.
  • Destrée, A.
  • Dhamija, R.
  • Eoli, M.
  • Evans, D.G.R.
  • Galvin-Parton, P.
  • George-Abraham, J.K.
  • Gripp, K.W.
  • Guevara-Campos, J.
  • Hanchard, N.A.
  • Hernández-Chico, C.
  • Immken, L.
  • Janssens, S.
  • Jones, K.J.
  • Keena, B.A.
  • Kochhar, A.
  • Liebelt, J.
  • Martir-Negron, A.
  • Mahoney, M.J.
  • Maystadt, I.
  • McDougall, C.
  • McEntagart, M.
  • Mendelsohn, N.
  • Miller, D.T.
  • Mortier, G.
  • Morton, J.
  • Pappas, J.
  • Plotkin, S.R.
  • Pond, D.
  • Rosenbaum, K.
  • Rubin, K.
  • Russell, L.
  • Rutledge, L.S.
  • Saletti, V.
  • Schonberg, R.
  • Schreiber, A.
  • Seidel, M.
  • Siqveland, E.
  • Stockton, D.W.
  • Trevisson, E.
  • Ullrich, N.J.
  • Upadhyaya, M.
  • van Minkelen, R.
  • Verhelst, H.
  • Wallace, M.R.
  • Yap, Y.-S.
  • Zackai, E.
  • Zonana, J.
  • Zurcher, V.
  • Claes, K.
  • Martin, Y.
  • Korf, B.R.
  • Legius, E.
  • Messiaen, L.M.
Copyright, Publisher and Additional Information: © 2017 The Authors. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Keywords: neurofibromatosis type 1; NF1genotype-phenotype correlation; missense mutation; codons 844–848; spinal NF; MPNST; plexiform neurofibroma; CSRD
Dates:
  • Published: 4 January 2018
  • Published (online): 28 December 2017
  • Accepted: 30 November 2017
Institution: The University of Sheffield
Depositing User: Symplectic Sheffield
Date Deposited: 10 Jan 2018 12:13
Last Modified: 10 Jan 2018 12:13
Published Version: https://doi.org/10.1016/j.ajhg.2017.12.001
Status: Published
Publisher: Elsevier
Refereed: Yes
Identification Number: https://doi.org/10.1016/j.ajhg.2017.12.001
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