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multigenic disease

 

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#)



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