This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of …

A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

Lens opacities, or cataract (s), may be inherited as a classic Mendelian disorder usually with
early-onset or, more commonly, acquired with age as a multi-factorial or complex trait. Many …

While most supernumerary teeth are idiopathic, they can be associated with a number of
Mendelian syndromes. However, this can also be a coincidental finding, since …

Cataracts are the principal cause of treatable blindness worldwide. Inherited congenital
cataract (CC) shows all types of inheritance patterns in a syndromic and nonsyndromic form …

Lens opacities or cataract (s) represent a universally important cause of visual impairment
and blindness. Typically, cataract is acquired with aging as a complex disorder involving …

Congenital cataracts are a major cause of induced blindness in children, and inherited
cataracts are the major cause of congenital cataracts. Inherited congenital cataracts have …

Worldwide 20,000–40,000 children with congenital or childhood cataract are born every
year with varying degrees and patterns of lens opacification with a broad aetiology. In most …

A cataract is defined as opacification of the normally transparent crystalline lens. Congenital
cataract (CC) is a type of cataract that presents at birth or during early childhood. CC is one …