As of 2019, only 60 cases had been reported in medical literature. Refsum disease is an inherited genetic disease that falls into a group of genetic disorders called leukodystrophies, which cause ...

This new knowledge offers now the exciting opportunity to increase our understanding of disease-causing mechanisms ... Department of Molecular Genetics, Institute of Ophthalmology, University ...

Refsum disease, Bassen-Kornzwig syndrome, Friedreck ataxia, Mucopolysaccharidosis) and it is referred as syndromic RP. 8 The genetics of RP is definitely multifaceted. The inheritance can be autos ...

Multifactorial diseases, such as coronary artery disease, can be as complex as their name suggests. How much can we hope to understand about diseases with such variation in inheritance?