Brief Report

A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism†

  1. Juana Fernández-Rodríguez1,‡,
  2. Joan Castellsagué1,‡,
  3. Llúcia Benito2,
  4. Yolanda Benavente3,4,
  5. Gabriel Capellá1,
  6. Ignacio Blanco2,
  7. Eduard Serra5,
  8. Conxi Lázaro1,*

Article first published online: 2 JUN 2011

DOI: 10.1002/humu.21500

Issue

Human Mutation

Human Mutation

Volume 32, Issue 7, pages 705–709, July 2011

Additional Information

How to Cite

Fernández-Rodríguez, J., Castellsagué, J., Benito, L., Benavente, Y., Capellá, G., Blanco, I., Serra, E. and Lázaro, C. (2011), A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism. Hum. Mutat., 32: 705–709. doi: 10.1002/humu.21500

Author Information

  1. 1

    Hereditary Cancer Program, Genetic Diagnosis Unit

  2. 2

    Hereditary Cancer Program, Genetic Counseling Unit

  3. 3

    Unit of Infections and Cancer (UNIC), Cancer Epidemiology Research Program, Institut Català d'Oncologia (ICO-IDIBELL)

  4. 4

    CIBER de Epidemiología y Salud Pública (CIBERESP), Spain

  5. 5

    L'Institut de Medicina Predictiva i Personalitzada del Càncer (IMPPC), Badalona, Barcelona, Spain

  1. ‡

    These two authors contributed equally to the study.

*Hereditary Cancer Program, Genetic Diagnosis Unit, Laboratori de Recerca Translacional, Institut Català d'Oncologia-ICO-IDIBELL, Hospital Duran i Reynals, Gran Via 199-203, L'Hospitalet de Llobregat, 08907, Spain

  1. †

    Communicated by Garry R. Cutting

Publication History

  1. Issue published online: 27 JUN 2011
  2. Article first published online: 2 JUN 2011
  3. Accepted manuscript online: 10 MAR 2011 11:59AM EST
  4. Manuscript Accepted: 24 FEB 2011
  5. Manuscript Received: 19 NOV 2010

Funded by

  • Spanish Health Research Fund; Carlos III Health Institute; Catalan Health Institute and Autonomous Government of Catalonia. Grant Number: ISCIIIRETIC; RD06/0020/1051; RD06/0020/1050; 2009SGR290; PI10/01422; CA08/00248

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