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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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Article
On-line přístup: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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