SHOX in short stature syndromes
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...
Gespeichert in:
| Hauptverfasser: | , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2001
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| In: |
Hormone research
Year: 2001, Jahrgang: 55, Pages: 21-23 |
| ISSN: | 1423-0046 |
| DOI: | 10.1159/000063458 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1159/000063458 Verlag, lizenzpflichtig, Volltext: https://www.karger.com/Article/FullText/63458 
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| Verfasserangaben: | Rüdiger J. Blaschke, Gudrun A. Rappold |
MARC
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| 520 | |a 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. | ||
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| 650 | 4 | |a Mutation | |
| 650 | 4 | |a Osteochondrodysplasias | |
| 650 | 4 | |a Short Stature Homeobox Protein | |
| 650 | 4 | |a Syndrome | |
| 650 | 4 | |a Turner Syndrome | |
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