We identified a large family segregating an uncomplicated and early onset form of HSP. Exome sequencing revealed homozygosity for a novel ATL1 missense variant in the six affected family members, ...

Most inherited cataracts show autosomal dominant inheritance with complete penetrance, but expressivity is highly variable. Less frequently, autosomal recessive and X-linked inheritance patterns are ...

Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...

Retinitis pigmentosa is one of the commonest forms of inherited retina degenerative blindness worldwide. With the advent of molecular technologies it has become easier to identify the genetic defects ...

Cockayne syndrome is a rare genetic disorder caused by changes in the ERCC8 or ERCC6 genes. People with the disorder have many health issues, such as premature aging, that shorten a person’s life ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

Genes are located on chromosomes. Chromosomes are in pairs and genes, or their alleles, are located on each of these pairs. When the cell divides in half, each chromosome ends up in a different cell.

A preliminary analysis is presented of the mode of inheritance of patterns of male secondary sex coloration in several wild populations of Lebistes reticulatus in Trinidad. A high proportion of such ...