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The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy

BACKGROUND: The implementation of molecular karyotyping has resulted in an improved diagnostic yield in the genetic diagnostics of congenital anomalies, detected prenatally or after the termination of pregnancy. However, the systematic epidemiologic ascertainment of copy number variations in the eti...

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Detalles Bibliográficos
Autores principales: Rudolf, Gorazd, Lovrečić, Luca, Tul, Nataša, Teran, Nataša, Peterlin, Borut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565594/
https://www.ncbi.nlm.nih.gov/pubmed/31004418
http://dx.doi.org/10.1002/mgg3.658