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ENEpiphyseal Chondrodysplasia, Miura Type (ECDM)
Alias:
Tall Stature-Scoliosis-Macrodactyly of the Great Toes Syndrome
Ecdm
Tall Stature-Scoliosis-Macrodactyly of the Halluces Syndrome
Miura Type Epiphyseal Chondrodysplasia
Tall Stature-Long Halluces-Multiple Extra-Epiphyses Syndrome
Chondrodysplasia, Epiphyseal, Miura Type
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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 and smooth muscle, and related phenotypes are scoliosis and osteopenia
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