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 ...

Here, we present the molecular analysis of 23 Pakistani families with MCPH. We found mutations that were pathogenic or likely to be pathogenic in 22 families and confirmed that mutations in ASPM or ...