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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
- Correspondence to: G Rappold Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg,Germany; gudrun_rappoldmed.uni-heidelberg.de
Citation
A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasia
Publication history
- Accepted December 18, 2003
- Revised December 16, 2003
- First published June 1, 2004.
Online issue publication
April 27, 2016
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Copyright 2004 Journal of Medical Genetics