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 ...

A large consanguineous family with four individuals displaying five incisors in the anterior mandible is described. This family condition led us to propose a hypothesis of an autosomal recessive ...

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 ...

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 ...

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 ...