Total: 1 |
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PMID (PMCID) | ||
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24075385 |
FEMALE | Adult |
Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II. | ||
Chen CP, Chang TY, Lin MH, Chern SR, Su JW, Wang W. Taiwan J Obstet Gynecol. 2013;52(3):420-5. |
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Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II. |