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  • A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasia

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A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasia

https://doi.org/10.1136/jmg.2003.016402

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    Footnotes

    • This work was supported by the Deutsche Forschungsgemeinschaft, Eli Lilly & Co., and the Spanish Ministry of Health, Instituto de Salud Carlos III.

    • Conflicts of interest: none declared