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, ...

Amyoplasia has been previously described as a sporadic congenital form of skeletal muscle dysplasia resulting in arthrogryposis. We presently follow two families in which amyoplasia is not sporadic ...

In a recent study published in the Journal of Experimental Medicine, researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 ...

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 ...

Cystic fibrosis (CF) is an autosomal recessive condition. This means that a person will have CF only if they receive the affected gene from both parents at conception. Share on Pinterest Dalibor ...

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.

Terms like "autosomal recessive" and "dominant" are frequently tossed around, and you've probably heard them. But what does any of that really mean regarding the traits that children inherit from ...

Amanda MacMillan is a health and science writer and editor. Her work appears across brands like Health, Prevention, SELF, O Magazine, Travel + Leisure, Time Out New York, and National Geographic's The ...