Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

Down syndrome (DS), a complex disorder that is caused by the trisomy of chromosome 21
(Hsa21), is a major cause of congenital heart defects (CHD). Interestingly, only about 50% of …

In a majority of individuals with disorders/differences of sex development (DSD) a genetic
etiology is often elusive. However, new genes causing DSD are routinely reported and using …

Persons with Down syndrome (DS) have an increased reported incidence of pulmonary
hypertension (PH). A majority of those with PH have associations with congenital heart …

The frequent occurrence of congenital heart defects (CHDs) in chromosome abnormality
syndromes is well‐known, and among aneuploidy syndromes, distinctive patterns have …

Atrioventricular septal defects (AVSD) are a severe congenital heart defect present in
individuals with Down syndrome (DS) at a> 2000-fold increased prevalence compared to …

Down syndrome (DS) is a genetic disorder caused by a trisomy of the human chromosome
21 (Hsa21). Overexpression of Hsa21 genes that encode proteins and non-coding RNAs …

Abstract Purpose of Review Congenital heart disease (CHD) is the most frequently occurring
birth defect. Majority of the earlier reviews focussed on the association of genetic factors with …

Congenital heart disease (CHD) encompasses a wide range of structural defects of the heart
and, in many cases, the factors that predispose an individual to disease are not well …

Congenital heart defects (CHD) affect 50% of Down's syndrome (DS) cases. This review
focusses on the pathogenic molecular mechanism leading to the formation of DS-associated …