ESPE Abstracts

Acromicric dysplasia AD）is a relatively rare congenital disease characterized by server short stature、short extremities、and progressive joint limitation. The skeletal dysplasia significantly affects the physical and mental health of children and adolescents. FBN1 heterozygous point mutations in TB5 domain have been proposed as the predominant cause of AD. While upregulation of TGF-β signaling has been proposed as the underlying molecular mech...

Background: 46, XY female disorders of sex development (46, XY female DSD) are congenital conditions caused by abnormal gonadal development or in androgen synthesis or action. Genes play an important role in DSD, but mechanisms are not clear. This study identified a Chinese family with the 46, XY female DSD caused by the CUL4B gene.Method: s: The proband medical history and pedigree were investigated. Variants analysis w...