Article
Neuroimaging findings in children with rare or novel de novo chromosomal anomalies.
Birth defects research. Part A, Clinical and molecular teratology - 1 Apr 2008
Epstein Leon G, Jalali Ali, Chary Ajit N, Khan Sophia, Ross Joshua, Coppinger Justine, Carlson Katrin, Charrow Joel, Burton Barbara, Zimmerman Donald, Curran John, Kim Francine, Nguyen Pam, Burrowes Delilah, Angle Brad, Stack Cynthia, Shaffer Lisa, Kessler John A, Bassuk Alexander G
Abstract excerpt
BACKGROUND: De novo constitutional chromosomal anomalies provide important insights into the genetic loci responsible for congenital neurological disorders. However, most phenotypic descriptions of patients with rare chromosomal abnormalities are published as individual case reports or small group studies, making genotype-phenotype correlations unclear. Moreover, many clinical genetic reports do not include...
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