Amyoplasia has been previously described as a sporadic congenital form of skeletal muscle dysplasia resulting in arthrogryposis. We presently follow two families in which amyoplasia is not sporadic ...

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 ...

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 ...

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 ...