Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations

Exome sequencing has been increasingly implemented in prenatal genetic testing for fetuses with morphological abnormalities but normal rapid aneuploidy detection and microarray analysis. We present a retrospective study of 90 fetuses with different abnormal ultrasound findings, in which we employed...

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Detalles Bibliográficos
Autores principales: Smogavec, Mateja, Gerykova Bujalkova, Maria, Lehner, Reinhard, Neesen, Jürgen, Behunova, Jana, Yerlikaya-Schatten, Gülen, Reischer, Theresa, Altmann, Reinhard, Weis, Denisa, Duba, Hans-Christoph, Laccone, Franco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8991249/
https://www.ncbi.nlm.nih.gov/pubmed/34974531
http://dx.doi.org/10.1038/s41431-021-01012-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8991249/
https://www.ncbi.nlm.nih.gov/pubmed/34974531
http://dx.doi.org/10.1038/s41431-021-01012-7

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