A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

Authors

  • Matías Morín,

    1. Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain
    2. Centre for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
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  • Antonio Viñuela,

    1. Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain
    2. Centre for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
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  • Teresa Rivera,

    1. Servicio de ORL, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Spain
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  • Manuela Villamar,

    1. Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain
    2. Centre for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
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  • Miguel A. Moreno-Pelayo,

    1. Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain
    2. Centre for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
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  • Felipe Moreno,

    1. Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain
    2. Centre for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
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  • Ignacio del Castillo

    Corresponding author
    1. Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain
    2. Centre for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
    • Unidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar, km 9, 28034 Madrid, Spain.
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  • How to cite this article: Morín M, Viñuela A, Rivera T, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I. 2008. A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. Am J Med Genet Part A 146A:1032–1037.

  • Matías Morín and Antonio Viñuela contributed equally to this work.

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