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

J Med Genet

Institute of Human Genetics, University of Heidelberg, Germany.

Published: June 2004

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735821	PMC
http://dx.doi.org/10.1136/jmg.2003.016402	DOI Listing

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