Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. [electronic resource]
Producer: 20140616Description: 1589-96 p. digitalISSN:- 1098-1004
- 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
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Review
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