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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2004 | 2 |
2011 | 1 |
2024 | 0 |
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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.
J Med Genet. 2004 Jun;41(6):e83. doi: 10.1136/jmg.2003.016402.
J Med Genet. 2004.
PMID: 15173249
Free PMC article.
No abstract available.
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE.
Barca-Tierno V, et al.
Eur J Hum Genet. 2011 Dec;19(12):1218-25. doi: 10.1038/ejhg.2011.128. Epub 2011 Jun 29.
Eur J Hum Genet. 2011.
PMID: 21712857
Free PMC article.
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Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.
Sabherwal N, Schneider KU, Blaschke RJ, Marchini A, Rappold G.
Sabherwal N, et al.
J Cell Sci. 2004 Jun 15;117(Pt 14):3041-8. doi: 10.1242/jcs.01152. Epub 2004 Jun 1.
J Cell Sci. 2004.
PMID: 15173321
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