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Prenatal Profile of Cornelia de Lange Syndrome (CdLS): A Review of 53 Pregnancies

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 dia...

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Autors principals: Clark, Dinah M., Sherer, Ilana, Deardorff, Matthew A., Byrne, Janice L.B., Loomes, Kathleen M., Nowaczyk, Malgorzata J.M., Jackson, Laird G., Krantz, Ian D.
Format: Artigo
Idioma:Inglês
Publicat: 2012
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3402646/
https://ncbi.nlm.nih.gov/pubmed/22740382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35410
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