Total: 1 |
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PMID (PMCID) | ||
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24458798 |
FEMALE | Middle Aged |
Long-term observation of a patient with dominant omodysplasia. | ||
Gordon BL, Champaigne NL, Rogers RC, Frias JL, Leroy JG. Am J Med Genet A. 2014;164A(5):1234-8. |
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We report on the natural history of a female with dominant omodysplasia, a rare osteochondrodysplasia with short stature, rhizomelia of the extremities (upper extremities more affected), and short first metacarpals. |