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

Families underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used ...

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 ...

In a previous trial involving patients with early autosomal dominant polycystic kidney disease (ADPKD; estimated creatinine clearance, ≥60 ml per minute), the vasopressin V 2-receptor antagonist ...

For the first time researchers from Hebrew University of Jerusalem, Radboudumc, Maastricht UMC+ and international colleagues have gained insight into the "hidden genetic defects" of the general ...

Although the last 5 years have brought enormous progress in unraveling the genetic roots of CVID, namely the identification of recessive defects in ICOS, TACI, CD19 and BAFF-R, the entire field is ...

Below are diseases that are often screened for in Jewish couples who are planning to have children because of an elevated risk of carrying a recessive mutation. Researchers so far have identified many ...

Researchers have gained insight into the 'hidden genetic defects' of the general European population. This is important because these defects, if inherited from both father and mother, can lead to all ...