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ENBoudin-Mortier Syndrome (BOMOS)
Alias:
Tall Stature and Long Digits with Extra Epiphyses
Bomos
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Boudin-Mortier Syndrome, also known as tall stature and long digits with extra epiphyses, is related to epiphyseal chondrodysplasia, miura type. An important gene associated with Boudin-Mortier Syndrome is NPR3 (Natriuretic Peptide Receptor 3). Affiliated tissues include bone, and related phenotypes are tall stature and pseudoepiphyses of the middle phalanges of the hand
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MALACARDS
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