Skeletal Deformity Associated with SHOX Deficiency

• Published in: Clinical Pediatric Endocrinology Vol. 23; no. 3; pp. 65 - 72
• Main Authors: Seki, Atsuhito, Jinno, Tomoko, Suzuki, Erina, Takayama, Shinichiro, Ogata, Tsutomu, Fukami, Maki
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society for Pediatric Endocrinology 01.07.2014
• Subjects: chondrocyte; Leri-Weill dyschondrosteosis; Madelung deformity; Review; short stature; Vickers ligament; Vickers ligament; short stature; Leri-Weill dyschondrosteosis; chondrocyte; Madelung deformity

SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2–16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature...