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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
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Article
Acesso em linha: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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