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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主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2013
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Article
オンライン･アクセス: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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