NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.

Pehlivan, Davut

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