Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...

We identified a large family segregating an uncomplicated and early onset form of HSP. Exome sequencing revealed homozygosity for a novel ATL1 missense variant in the six affected family members, ...

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 ...

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 ...

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 ...

A rare inherited disorder, Xeroderma Pigmentosum (XP) is a photosensitive condition characterized by high susceptibility to skin cancers. XP follows the autosomal recessive pattern of inheritance.