Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation. [electronic resource]
Producer: 20150706Description: 503-9 p. digitalISSN:- 1878-0849
- Alleles
- Amino Acid Sequence
- Cell Cycle Proteins
- Comparative Genomic Hybridization
- De Lange Syndrome -- diagnosis
- Exome
- Gene Order
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Male
- Models, Molecular
- Molecular Sequence Data
- Musculoskeletal Abnormalities -- genetics
- Mutation
- Pedigree
- Phenotype
- Protein Conformation
- Proteins -- chemistry
- Sequence Alignment
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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