Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies.
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DOI: 10.3233/npm-1854
Abstract: We report a case of two consecutive pregnancies in the same couple presenting with very low pregnancy-associated plasma protein A (PAPP-A), with both pregnancies affected by multiple anomalies of a similar phenotype identified during mid-trimester… read more here.
Keywords: diagnosis; papp; consecutive pregnancies; diagnosis peters ... See more keywords