Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > multigenic disease

multigenic disease

Monday 17 November 2003

Mutations in two genes encoding different subunits of a receptor signaling complex can result in an identical disease phenotype. Exemples:

- Hirschsprung diseases
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) (Nasu-Hakola disease) (12080485)