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Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies

27 Jun 2012

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is a multisystem developmental disorder characterized by growth retardation, cognitive impairment, external and internal structural malformations, and characteristic facial features. Currently, there are no definitive prenatal screening measures that lead to the diagnosis of CdLS. In this study, documented prenatal findings in CdLS syndrome were analyzed towards the development...

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PMID: 22740382
DOI: 10.1002/ajmg.a.35410

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