TY  - GEN
AU  - Pehlivan,Davut
AU  - Hullings,Melanie
AU  - Carvalho,Claudia M B
AU  - Gonzaga-Jauregui,Claudia G
AU  - Loy,Elizabeth
AU  - Jackson,Laird G
AU  - Krantz,Ian D
AU  - Deardorff,Matthew A
AU  - Lupski,James R
TI  - NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation
SN  - 1530-0366
PY  - 2012///0709
KW  - Adolescent
KW  - Base Sequence
KW  - Cell Cycle Proteins
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Breakpoints
KW  - Comparative Genomic Hybridization
KW  - DNA Replication
KW  - De Lange Syndrome
KW  - genetics
KW  - Facies
KW  - Female
KW  - Gene Deletion
KW  - Gene Order
KW  - Genetic Association Studies
KW  - Humans
KW  - Infant
KW  - Male
KW  - Molecular Sequence Data
KW  - Phenotype
KW  - Proteins
KW  - Recombination, Genetic
KW  - Sequence Alignment
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/gim.2011.13
ER  -