• J Bone Joint Surg Am · Jun 2012

    Case Reports

    A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report.

    • María Andrea Delgado, Patricia Sarrión, Nydia Azar, Lorena Zecchini, Hector Hugo Robledo, Florencio Segura, Susana Balcells, Daniel Grinberg, Raquel Dodelson de Kremer, and Carla Gabriela Asteggiano.
    • Centro de Estudio de las Metabolopatías Congénitas, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.
    • J Bone Joint Surg Am. 2012 Jun 6;94(11):e76.

    no abstract available

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