Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

BACKGROUND: Since 2010, array-CGH (aCGH) has been the first-tier test in the diagnostic approach of children with neurodevelopmental disorders (NDD) or multiple congenital anomalies (MCA) of unknown origin. Its broad application led to the detection of numerous variants of uncertain clinical signifi...

Descripción completa

Detalles Bibliográficos
Autores principales: Maini, I., Ivanovski, I., Djuric, O., Caraffi, S. G., Errichiello, E., Marinelli, M., Franchi, F., Bizzarri, V., Rosato, S., Pollazzon, M., Gelmini, C., Malacarne, M., Fusco, C., Gargano, G., Bernasconi, S., Zuffardi, O., Garavelli, L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5845186/
https://www.ncbi.nlm.nih.gov/pubmed/29523172
http://dx.doi.org/10.1186/s13052-018-0467-z

Ejemplares similares

Ejemplares similares