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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2013
Témata:
Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky