Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

BACKGROUND: Fetal structural anomalies, which are detected by ultrasonography, have a range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; which are detectable by chromosomal microarrays), and pathogenic sequence variants in developmental genes. Testing for aneupl...

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Detalles Bibliográficos
Autores principales: Lord, Jenny, McMullan, Dominic J, Eberhardt, Ruth Y, Rinck, Gabriele, Hamilton, Susan J, Quinlan-Jones, Elizabeth, Prigmore, Elena, Keelagher, Rebecca, Best, Sunayna K, Carey, Georgina K, Mellis, Rhiannon, Robart, Sarah, Berry, Ian R, Chandler, Kate E, Cilliers, Deirdre, Cresswell, Lara, Edwards, Sandra L, Gardiner, Carol, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Lester, Tracy, Lewis, Rebecca A, Newbury-Ecob, Ruth, Prescott, Katrina, Quarrell, Oliver W, Ramsden, Simon C, Roberts, Eileen, Tapon, Dagmar, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Parker, Michael, Williams, Denise, Jenkins, Lucy, Scott, Richard H, Kilby, Mark D, Chitty, Lyn S, Hurles, Matthew E, Maher, Eamonn R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386638/
https://www.ncbi.nlm.nih.gov/pubmed/30712880
http://dx.doi.org/10.1016/S0140-6736(18)31940-8

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