Miura Type Epiphyseal Chondrodysplasia

About the Disease
Epiphyseal Chondrodysplasia, Miura Type, also known as tall stature-scoliosis-macrodactyly of the great toes syndrome, is related to boudin-mortier syndrome and overgrowth syndrome. An important gene associated with Epiphyseal Chondrodysplasia, Miura Type is NPR2 (Natriuretic Peptide Receptor 2). Affiliated tissues include bone, smooth muscle and endothelial, and related phenotypes are scoliosis and osteopenia

Common Targets
NPR2

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