NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. [electronic resource]
Producer: 20120709Description: 313-22 p. digitalISSN:- 1530-0366
- 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
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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