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Concept information

Preferred term

Short Stature Homeobox Protein  

Type

  • mesh:Descriptor

Definition

  • A homeodomain protein that is highly expressed in the nuclei of skeletal muscle, bone marrow, and osteogenic cells and has critical roles in growth and development. Its gene resides within PSEUDOAUTOSOMAL REGION 1 of X and Y chromosomes and mutations are associated with several growth disorders including LERI-WEIL SYNDROME; LANGER MESOMELIC DYSPLASIA; and SHORT STATURE, IDIOPATHIC, X-LINKED.

Broader concept

Entry terms

  • GCFX Protein
  • PHOG Protein
  • SHOX Protein
  • SHOXY Protein

In other languages

  • French

  • Homéoprotéine associée à la petite taille
  • Protéine à homéoboite associée à la petite taille
  • Protéine à homéoboîte associée à la petite taille
  • Protéine GCFX
  • Protéine PHOG
  • Protéine SHOX
  • Protéine SHOXY

URI

http://data.loterre.fr/ark:/67375/JVR-Q90FB9F4-M

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RDF/XML TURTLE JSON-LD Created 7/11/17, last modified 2/27/17