Ontology highlight
ABSTRACT:
SUBMITTER: Seki A
PROVIDER: S-EPMC4125598 | biostudies-literature | 2014 Jul
REPOSITORIES: biostudies-literature
Seki Atsuhito A Jinno Tomoko T Suzuki Erina E Takayama Shinichiro S Ogata Tsutomu T Fukami Maki M
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 20140701 3
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 in patients with SHOX deficiency is Madelung deformity, a cluster of anatomical changes in the wrist that can be attributed to premature epiphyseal fusion of the distal radius. Computed tomography of ...[more]