TBX15 Polyclonal Antibody

disease:Defects in TBX15 are the cause of Cousin syndrome [MIM:260660]; also called craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature. Cousin syndrome is defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, and a low hairline). Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synosthosis, dislocation of the femoral heads, and moderate brachydactyly.,function:Probable transcriptional regulator involved in developmental processes.,similarity:Contains 1 T-box DNA-binding domain.,