TY  - GEN
AU  - Mannini,Linda
AU  - Cucco,Francesco
AU  - Quarantotti,Valentina
AU  - Krantz,Ian D
AU  - Musio,Antonio
TI  - Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome
SN  - 1098-1004
PY  - 2014///0616
KW  - Cell Cycle Proteins
KW  - genetics
KW  - Chondroitin Sulfate Proteoglycans
KW  - Chromosomal Proteins, Non-Histone
KW  - DNA-Binding Proteins
KW  - De Lange Syndrome
KW  - diagnosis
KW  - Facies
KW  - Gene Expression
KW  - Genetic Association Studies
KW  - Genotype
KW  - Humans
KW  - Mutation
KW  - Nuclear Proteins
KW  - Phenotype
KW  - Phosphoproteins
KW  - Proteins
KW  - Cohesins
KW  - Structural Maintenance of Chromosome Protein 1
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Review
UR  - https://doi.org/10.1002/humu.22430
ER  -