Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...
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 ...
Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...
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 ...
Alport syndrome is a condition that develops due to mutations in three different genes – COL4A3, COL4A4 and COL4A5. The reason that the syndrome has a significant impact on the kidneys is because all ...
The Centre for Addiction and Mental Health (CAMH) has discovered a new form of intellectual disability involving mental retardation (MR) along with the eye defect retinitis pigmentosa (RP). CAMH also ...
Muscular dystrophies represent a group of more than 30 molecular and clinically heterogeneous genetic disorders, which cause progressive degeneration of the skeletal muscle fibers. Their main feature ...
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