Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...

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 ...

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 ...

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, ...

“Our study showed that the search for recessive effects in genome-wide association studies can be worthwhile, especially if somewhat rarer genetic variants are included, as is the case in the FinnGen ...

Discover the fascinating world of Mendelian genetics, where the inheritance of traits from parents to offspring follows predictable patterns. This concept explains how genetic information is ...

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 ...

Hypophosphatasia is an inherited metabolic disorder that affects the bones and teeth. This condition disrupts a process called mineralization, where calcium and phosphorus are deposited into the bones ...

In the heterozygous individual, A, if the allele that enables the person to produce the pigment in brown eyes is present, it does not matter what the second allele is - the person will be able to ...

An organism's characteristics are controlled by the genes it inherits from its parents. A gene is a location on a chromosome where there is a DNA base sequence that codes for a protein that controls a ...