Although schwannomatosis is a genetic condition, the inheritance patterns for this disorder are complex and much less clear than for both NF1 and NF2. Some cases of schwannomatosis are familial, with ...
Identifying mechanisms of diseases with complex inheritance patterns, such as macular telangiectasia type 2, is challenging. A link between macular telangiectasia type 2 and altered serine metabolism ...
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 ...