Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

The genetic etiology of non-aneuploid fetal structural abnormalities is typically investigated by karyotyping and array-based detection of microscopically detectable rearrangements, and submicroscopic copy-number variants (CNVs), which collectively yield a pathogenic finding in up to 10% of cases. W...

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Detalles Bibliográficos
Autores principales: Carss, Keren J., Hillman, Sarah C., Parthiban, Vijaya, McMullan, Dominic J., Maher, Eamonn R., Kilby, Mark D., Hurles, Matthew E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030780/
https://www.ncbi.nlm.nih.gov/pubmed/24476948
http://dx.doi.org/10.1093/hmg/ddu038

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030780/
https://www.ncbi.nlm.nih.gov/pubmed/24476948
http://dx.doi.org/10.1093/hmg/ddu038

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