Article
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.
Human mutation - 1 Jul 2005
Schneider Katja U, Marchini Antonio, Sabherwal Nitin, Röth Ralph, Niesler Beate, Marttila Tiina, Blaschke Rüdiger J, Lawson Margaret, Dumic Miroslav, Rappold Gudrun
Abstract excerpt
Haploinsufficiency of the short stature homeobox gene SHOX has been found in patients with idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). In addition to complete gene deletions and nonsense mutations, several missense mutations have been identified in both patient groups, leading to amino acid substitutions in the SHOX protein. The majority of missense mutations were found to accumulate in...
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