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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2013
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Article
Accesso online: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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