The transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signaling
pathways play a pivotal role in bone development and skeletal health. More than 30 different …

Aortic disease has many forms including aortic aneurysm and dissection, aortic coarctation
or abnormalities in aortic function, such as loss of aortic distensibility. Genetic analysis in …

Transforming growth factor-beta (TGF-β) signaling is essential for the maintenance of the
normal structure and function of the aorta. It includes SMAD-dependent canonical pathways …

Congenital heart disease (CHD) is the most common major congenital anomaly with an
incidence of∼ 1% of live births and is a significant cause of birth defect–related mortality …

Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–
50% of patients with 22q11. 2 deletion syndrome (22q11. 2DS). This syndrome is a rare …

Cardiomyopathy (CMP) is a rare disease in the pediatric population, with a high risk of
morbidity and mortality. The genetic etiology of CMPs in children is extremely heterogenous …

Intellectual disability (ID) and autism spectrum disorder (ASD) are two of the most common
neurodevelopmental disorders. Both disorders are extremely heterogenous, and only~ 40 …

Current management of isolated CoA, localized narrowing of the aortic arch in the absence
of other congenital heart disease, is a success story with improved prenatal diagnosis, high …

Purpose Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are characterized by
short stature, short extremities, and progressive joint limitation. In GD, cardiorespiratory …

Background Environmental fluctuation during embryonic and fetal development can
permanently alter an organism's morphology, physiology, and behaviour. This phenomenon …