Total: 1 |
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PMID (PMCID) | ||
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25900371 |
MALE | |
Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures. | ||
Maziad AS, Seaver LH. Am J Med Genet A. 2015;167(7):1582-6. |
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This report describes the phenotype and evaluation of mosaic pure tetrasomy 20p syndrome and compares to nonmosaic tetrasomy 20p and trisomy 20p syndromes, both of which have been previously reported in association with osteopenia and fractures. |