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 ...

Thirty Italian and 18 Spanish families with deafness were included in the study. They were recruited in several clinical genetics services and schools for the deaf from Southern Italy and Spain.

Most people with ALS don’t have a family history of it. Still, some cases of ALS are linked to inheriting specific gene mutations. Even nonfamilial cases can be linked to sporadic gene mutations that ...

Based on the inheritance pattern, EDS can be classified as autosomal dominant, autosomal recessive, and autosomal dominant or recessive. In each of these types, a set of major and minor criteria is ...

Data from this Australian study showed a higher prevalence of intracranial aneurysms (ICAs) in patients with ADPKD compared with the general population. Many patients in the study had no known risk ...