Expanding the skeletal phenotype of Loeys-Dietz syndrome

Authors

  • Sérgio B. Sousa,

    1. Department of Medical Genetics (AP-HP), Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Paris, France
    2. Serviço de Genética Médica, Hospital Pediátrico de Coimbra, Coimbra, Portugal
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  • Karen Lambot-Juhan,

    1. Service de Radiologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France
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  • Marlène Rio,

    1. Department of Medical Genetics (AP-HP), Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Paris, France
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  • Geneviève Baujat,

    1. Department of Medical Genetics (AP-HP), Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Paris, France
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  • Vicken Topouchian,

    1. Service de Chirurgie Orthopédique Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France
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  • Nadine Hanna,

    1. Université Versailles-SQY, Service de Biochimie et Génétique Moléculaire (AP-HP), Hôpital Ambroise Paré, Boulogne-Billancourt, France
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  • Martine Le Merrer,

    1. Department of Medical Genetics (AP-HP), Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Paris, France
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  • Francis Brunelle,

    1. Service de Radiologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France
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  • Arnold Munnich,

    1. Department of Medical Genetics (AP-HP), Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Paris, France
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  • Catherine Boileau,

    1. Department of Medical Genetics (AP-HP), Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Paris, France
    2. Université Versailles-SQY, Service de Biochimie et Génétique Moléculaire (AP-HP), Hôpital Ambroise Paré, Boulogne-Billancourt, France
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  • Valérie Cormier-Daire

    Corresponding author
    1. Department of Medical Genetics (AP-HP), Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Paris, France
    • Département de Génétique, Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Paris, France.
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  • How to Cite this Article: Sousa SB, Lambot-Juhan K, Rio M, Baujat G, Topouchian V, Le Merrer M, Brunelle F, Munnich A, Boileau C, Cormier-Daire V. 2011. Expanding the skeletal phenotype of Loeys-Dietz syndrome. Am J Med Genet Part A 155:1178–1183.

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