PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Annals of Pediatric Endocrinology & Metabolism10.6065/apem.2015.20.3.1622015203162A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis ofSHOXgeneWon Bok Choi, Seung Hyeon Seo, Woo Hyun Yoo, Su Young Kim, Min Jung Kwakhttp://e-apem.org/upload/pdf/apem-20-162.pdf
Yearbook of Pediatrics10.1016/s0084-3954(08)70070-820072007125-127The Phenotype of Short Stature Homeobox Gene (SHOX) Deficiency in Childhood: Contrasting Children With Leri-Weill Dyschondrosteosis and Turner SyndromeJ.A. Stockmanhttps://api.elsevier.com/content/article/PII:S0084395408700708?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0084395408700708?httpAccept=text/plain
Nature Genetics10.1038/ng0198-70199819170-73Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosisDeborah J. Shears, Humberto J. Vassal, Frances R. Goodman, Rodger W. Palmer, William Reardon, Andrea Superti-Furga, Peter J. Scambler, Robin M. Winterhttp://www.nature.com/articles/ng0598-70, http://www.nature.com/articles/ng0598-70.pdf, http://www.nature.com/articles/ng0598-70.pdf
Bone10.1016/s8756-3282(00)80164-7200027447Shox : effect in leri-weill dyschondrosteosisCFJ Munns, R LaBrom, S Flanagan, G Rappold, G Philips, D Vickers, I Glass, J Batchhttps://api.elsevier.com/content/article/PII:S8756328200801647?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S8756328200801647?httpAccept=text/plain
Encyclopedia of Genetics, Genomics, Proteomics and Informatics10.1007/978-1-4020-6754-9_49802008571-571Dyschondrosteosis (Leri-Weill syndrome)http://link.springer.com/content/pdf/10.1007/978-1-4020-6754-9_4980
Acta Paediatrica10.1111/j.1651-2227.1999.tb14404.x199988s43355-59SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndromeV Cormier-Daire, V Belin, V Cusin, G Viot, D Girlich, A Toutain, A Moncla, M Vekemans, M Le Merrer, A Munnichhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1651-2227.1999.tb14404.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.1999.tb14404.x/fullpdf
Human Mutation10.1002/humu.20187200526144-52Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosisKatja U. Schneider, Antonio Marchini, Nitin Sabherwal, Ralph Röth, Beate Niesler, Tiina Marttila, Rüdiger J. Blaschke, Margaret Lawson, Miroslav Dumic, Gudrun Rappoldhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.20187, https://onlinelibrary.wiley.com/doi/full/10.1002/humu.20187
Ultrasound in Obstetrics & Gynecology10.1002/uog.15446201546165-165P14.03: Prenatal diagnosis and counselling of Leri-Weill dyschondrosteosisD. Kramer, R. Crijns, C. Willekes, A. Coumans, M. Pieters, C. de Die, M. Macville, I. Witters, S. Al Nasiryhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fuog.15446, https://onlinelibrary.wiley.com/doi/full/10.1002/uog.15446
Nature Genetics10.1038/ng0198-67199819167-69SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)Valérie Belin, Veronica Cusin, Géraldine Viot, Delphine Girlich, Annick Toutain, Anne Moncla, Michel Vekemans, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Dairehttp://www.nature.com/articles/ng0598-67, http://www.nature.com/articles/ng0598-67.pdf, http://www.nature.com/articles/ng0598-67.pdf
The Journal of Pediatrics10.1016/j.jpeds.2005.04.06920051474499-507The Phenotype of Short Stature Homeobox Gene (SHOX) Deficiency in Childhood: Contrasting Children with Leri-Weill Dyschondrosteosis and Turner SyndromeJudith L. Ross, Karen Kowal, Charmian A. Quigley, Werner F. Blum, Gordon B. Cutler, Brenda Crowe, Karine Hovanes, Frederick F. Elder, Andrew R. Zinnhttps://api.elsevier.com/content/article/PII:S0022347605004579?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0022347605004579?httpAccept=text/plain