NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. [electronic resource]
- Genetics in medicine : official journal of the American College of Medical Genetics Mar 2012
- 313-22 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1530-0366
10.1038/gim.2011.13 doi
Adolescent Base Sequence Cell Cycle Proteins Child Child, Preschool Chromosome Breakpoints Comparative Genomic Hybridization DNA Replication De Lange Syndrome--genetics Facies Female Gene Deletion Gene Order Genetic Association Studies Humans Infant Male Molecular Sequence Data Phenotype Proteins--genetics Recombination, Genetic Sequence Alignment