Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

In recent studies on prenatal testing for Noonan syndrome (NS) in fetuses with an increased nuchal translucency (NT) and a normal karyotype, mutations have been reported in 9–16% of cases. In this study, DNA of 75 fetuses with a normal karyotype and abnormal ultrasound findings was tested in a diagn...

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Main Authors: Croonen, Ellen A, Nillesen, Willy M, Stuurman, Kyra E, Oudesluijs, Gretel, van de Laar, Ingrid M B M, Martens, Liesbeth, Ockeloen, Charlotte, Mathijssen, Inge B, Schepens, Marga, Ruiterkamp-Versteeg, Martina, Scheffer, Hans, Faas, Brigitte H W, van der Burgt, Ineke, Yntema, Helger G
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2013
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3746261/
https://ncbi.nlm.nih.gov/pubmed/23321623
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.285
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