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• W1992100084 abstract "Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the autopsy and the NIPBL gene mutation analysis." @default.
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• W1992100084 date "2009-02-25" @default.
• W1992100084 modified "2023-10-09" @default.
• W1992100084 title "Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings" @default.
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• W1992100084 doi "https://doi.org/10.1002/pd.2228" @default.
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