Nowakowska, Beata A

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. [electronic resource] - European journal of human genetics : EJHG Feb 2012 - 166-70 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/ejhg.2011.157 doi


Abnormalities, Multiple--diagnosis
DNA Copy Number Variations
Developmental Disabilities--diagnosis
Female
Genome-Wide Association Study
Humans
Male
Mutagenesis, Insertional
Pedigree
Translocation, Genetic