Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

Mannini, Linda

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. [electronic resource] - Human mutation Dec 2013 - 1589-96 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Review

1098-1004

10.1002/humu.22430 doi


Cell Cycle Proteins--genetics
Chondroitin Sulfate Proteoglycans--genetics
Chromosomal Proteins, Non-Histone--genetics
DNA-Binding Proteins
De Lange Syndrome--diagnosis
Facies
Gene Expression
Genetic Association Studies
Genotype
Humans
Mutation
Nuclear Proteins--genetics
Phenotype
Phosphoproteins--genetics
Proteins--genetics
Cohesins
Structural Maintenance of Chromosome Protein 1