SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature

• Published in: Molecular syndromology Vol. 7; no. 1; pp. 3 - 11
• Main Authors: Fukami, Maki, Seki, Atsuhito, Ogata, Tsutomu
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.04.2016
• Subjects: Review; Review Article; Léri-Weill syndrome; Skeletal deformity; Pseudoautosomal region; Short stature; Bone; Mutation; Turner syndrome

SHOX in the short arm pseudoautosomal region (PAR1) of sex chromosomes is one of the major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature and Léri-Weill dyschondrosteosis and is associated with the short stature of patients with Turner syndrome. The SHOX protein...