Objective To explore the relationship between X - linked spondyloepiphyseal dysplasia tarda (SEDL) gene escaping X chromosome inactivation( XCI) and SEDL phenotype.

• 目的探讨X-连锁迟发性脊椎骨骺发育不良(SEDL)基因逃避X染色体失活(XCI)及与临床表型的关系。