SHOX in short stature syndromes

• Verfasst von: Blaschke, Rüdiger Jörg [VerfasserIn]
• Verfasst von: Rappold, Gudrun [VerfasserIn]
• Titel: SHOX in short stature syndromes
• Verf.angabe: Rüdiger J. Blaschke, Gudrun A. Rappold
• Jahr: 2001
• Umfang: 3 S.
• Teil: volume:55
• Teil: year:2001
• Teil: supplement:Suppl 1
• Teil: pages:21-23
• Teil: extent:3
• Fussnoten: Elektronische Reproduktion der Druck-Ausgabe ; Published online: November 17, 2004 ; Gesehen am 24.03.2021
• Titel Quelle: Enthalten in: Hormone research
• Ort Quelle: Basel : Karger, 1973
• Jahr Quelle: 2001
• Band/Heft Quelle: 55(2001), Suppl 1, Seite 21-23
• ISSN Quelle: 1423-0046
• DOI: doi:10.1159/000063458
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Body Height
• Sach-SW: Cloning, Molecular
• Sach-SW: Growth Disorders
• Sach-SW: Homeodomain Proteins
• Sach-SW: Humans
• Sach-SW: Mutation
• Sach-SW: Osteochondrodysplasias
• Sach-SW: Short Stature Homeobox Protein
• Sach-SW: Syndrome
• Sach-SW: Turner Syndrome
• K10plus-PPN: 175230392X

Abstract

Linear growth is a multifactorial trait that is influenced and regulated by a combination of environmental and internal factors. Among the intrinsic determinants of final body height, genetic factors have become more and more prominent, and the list of genes involved in growth-related processes has been extended accordingly. One of the most exciting additions to this list is represented by the discovery of the pseudoautosomal gene SHOX. Originally described as a gene responsible for idiopathic short stature, it has become clear that SHOX mutations can also cause mesomelic short stature and Madelung deformity in Léri-Weill syndrome. In addition, recent studies implicate SHOX haploinsufficiency in a variety of somatic Turner syndrome stigmata.