Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs

BACKGROUND: The overall birth prevalence for congenital malformations of the central nervous system (CNS) among Europeans may be as high as 1 in 100 live births. The etiological factors remain largely unknown. The aim of this study was to detect causative copy number variations (CNVs) in fetuses of...

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Detalles Bibliográficos
Autores principales: Schumann, Madita, Hofmann, Andrea, Krutzke, Sophia K., Hilger, Alina C., Marsch, Florian, Stienen, Dietlinde, Gembruch, Ulrich, Ludwig, Michael, Merz, Waltraut M., Reutter, Heiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832534/
https://www.ncbi.nlm.nih.gov/pubmed/27087860
http://dx.doi.org/10.1186/s11689-016-9144-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832534/
https://www.ncbi.nlm.nih.gov/pubmed/27087860
http://dx.doi.org/10.1186/s11689-016-9144-y

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