Annals of Pediatric Endocrinology & Metabolism

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A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene

Won Bok Choi, Seung Hyeon Seo, Woo Hyun Yoo, Su Young Kim, Min Jung Kwak

Ann Pediatr Endocrinol Metab. 2015;20(3):162-165. Published online September 30, 2015
DOI: https://doi.org/10.6065/apem.2015.20.3.162

A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis ofSHOXgene

Won Bok Choi, Seung Hyeon Seo, Woo Hyun Yoo, Su Young Kim, Min Jung Kwak

Annals of Pediatric Endocrinology & Metabolism. 2015;20(3):162

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The Phenotype of Short Stature Homeobox Gene (SHOX) Deficiency in Childhood: Contrasting Children With Leri-Weill Dyschondrosteosis and Turner Syndrome

J.A. Stockman

Yearbook of Pediatrics. 2007;2007:125-127

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Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

Deborah J. Shears, Humberto J. Vassal, Frances R. Goodman, Rodger W. Palmer, William Reardon, Andrea Superti-Furga, Peter J. Scambler, Robin M. Winter

Nature Genetics. 1998;19(1):70-73

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Shox : effect in leri-weill dyschondrosteosis

CFJ Munns, R LaBrom, S Flanagan, G Rappold, G Philips, D Vickers, I Glass, J Batch

Bone. 2000;27(4):47

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Dyschondrosteosis (Leri-Weill syndrome)

Encyclopedia of Genetics, Genomics, Proteomics and Informatics. 2008;571-571

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SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome

V Cormier-Daire, V Belin, V Cusin, G Viot, D Girlich, A Toutain, A Moncla, M Vekemans, M Le Merrer, A Munnich

Acta Paediatrica. 1999;88(s433):55-59

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Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis

Katja U. Schneider, Antonio Marchini, Nitin Sabherwal, Ralph Röth, Beate Niesler, Tiina Marttila, Rüdiger J. Blaschke, Margaret Lawson, Miroslav Dumic, Gudrun Rappold

Human Mutation. 2005;26(1):44-52

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SHOX 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-Daire

Nature Genetics. 1998;19(1):67-69

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P14.03: Prenatal diagnosis and counselling of Leri-Weill dyschondrosteosis

D. Kramer, R. Crijns, C. Willekes, A. Coumans, M. Pieters, C. de Die, M. Macville, I. Witters, S. Al Nasiry

Ultrasound in Obstetrics & Gynecology. 2015;46:165-165

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The Phenotype of Short Stature Homeobox Gene (SHOX) Deficiency in Childhood: Contrasting Children with Leri-Weill Dyschondrosteosis and Turner Syndrome

Judith L. Ross, Karen Kowal, Charmian A. Quigley, Werner F. Blum, Gordon B. Cutler, Brenda Crowe, Karine Hovanes, Frederick F. Elder, Andrew R. Zinn

The Journal of Pediatrics. 2005;147(4):499-507

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