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 ...

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 ...

Sickle cell trait is where a person carries a single mutated hemoglobin A beta subunit allele. Usually, two mutated copies of this gene are needed to cause sickle cell disease (SCD). Typically, people ...