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 ...

Autosomal inheritance is when a parent passes down a condition to a child via autosomes, a type of chromosome. In autosomal inheritance, a copy of a faulty gene from one parent can cause a condition ...

Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at the ...

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 ...

Researchers assessed the role of recessive genetic variants in developmental disorders, suggesting reanalysis of genetic data could improve understanding and diagnosis of conditions for millions of ...

Rothmund-Thomson syndrome is a genetic disorder that causes changes in growth and physical development. It may also lead to certain cancers but may not necessarily shorten a person’s life expectancy.

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 ...

Chédiak-Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive disorder. A congenital immunodeficiency, CHS is characterized by frequent bacterial infections, easy bruising, ...

Scientists have conducted the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders 1. They found that most undiagnosed cases that are due to ...