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

MENLO PARK, Calif., Dec. 6, 2022 /PRNewswire/ -- New clinical outcomes data [1] show the ability of UNITY Screen™ to accurately identify pregnancies at risk for recessively inherited genetic ...

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 ...

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.

Hemophilia is a bleeding disorder that can affect the blood’s ability to clot properly. In most cases, people inherit the gene variations for hemophilia in an X-linked recessive inheritance pattern.

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 ...