SHOX at a glance: from gene to protein.

摘要: The Short Stature Homeobox-containing Gene SHOX was identified as the genetic cause of short stature phenotype in patients with Turner Syndrome and certain idiopathic stature. Shortly after, mutations were also associated growth failure skeletal deformities seen Leri - Weill dyschondrosteosis Langer mesomelic dysplasia. Today it is estimated that occur an incidence roughly 1:1,000 newborns, making this gene one most common defects leading to humans. This review summarises involvement several syndromes describes recent advances our understanding functions regulation. We discuss current evidence literature points a role protein bone development. These studies have improved knowledge functions, given insight into etiopathogenesis However, exact development still remains elusive poses next major challenge for researchers field.