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References

These sources were used to develop the Genetics Home Reference gene summary on the SHOX gene.

Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, Häusler G, Fricke-Otto S, Frisch H, Heinrich JJ, Ranke MB. SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. J Clin Endocrinol Metab. 2004 Sep;89(9):4403-8. PubMed citation
Binder G. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm Res Paediatr. 2011 Feb;75(2):81-9. doi: 10.1159/000324105. Epub 2011 Feb 4. Review. PubMed citation
Campos-Barros A, Benito-Sanz S, Ross JL, Zinn AR, Heath KE. Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD). Am J Med Genet A. 2007 May 1;143A(9):933-8. PubMed citation
Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachan T, Lindsay S, Rappold GA. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet. 2000 Mar 22;9(5):695-702. PubMed citation
Entrez Gene
Falcinelli C, Iughetti L, Percesepe A, Calabrese G, Chiarelli F, Cisternino M, De Sanctis L, Pucarelli I, Radetti G, Wasniewska M, Weber G, Stuppia L, Bernasconi S, Forabosco A. SHOX point mutations and deletions in Leri-Weill dyschondrosteosis. J Med Genet. 2002 Jun;39(6):E33. PubMed citation
Hirschfeldova K, Solc R, Baxova A, Zapletalova J, Kebrdlova V, Gaillyova R, Prasilova S, Soukalova J, Mihalova R, Lnenicka P, Florianova M, Stekrova J. SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis. Gene. 2012 Jan 10;491(2):123-7. doi: 10.1016/j.gene.2011.10.011. Epub 2011 Oct 14. PubMed citation
Jorge AA, Funari MF, Nishi MY, Mendonca BB. Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment. Pediatr Endocrinol Rev. 2010 Dec;8(2):79-85. Review. PubMed citation
Marchini A, Rappold G, Schneider KU. SHOX at a glance: from gene to protein. Arch Physiol Biochem. 2007 Jun;113(3):116-23. Review. PubMed citation
Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet. 2007 May;44(5):306-13. Epub 2006 Dec 20. PubMed citation
Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab. 2002 Mar;87(3):1402-6. PubMed citation
Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL. Complete SHOX deficiency causes Langer mesomelic dysplasia. Am J Med Genet. 2002 Jun 15;110(2):158-63. PubMed citation


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