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. 2004 Jun;41(6):e83. doi: 10.1136/jmg.2003.016402
A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasia
N Sabherwal
, R Blaschke
, A Marchini
, D Heine-Suner
, J Rosell
, J Ferragut
, W Blum
, G Rappold
N Sabherwal
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R Blaschke
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A Marchini
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D Heine-Suner
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J Rosell
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J Ferragut
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W Blum
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G Rappold
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PMCID: PMC1735821 PMID: 15173249