Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing. [electronic resource]
Producer: 20120123Description: 1720-7 p. digitalISSN:- 1549-5469
- Adult
- Base Sequence
- Campomelic Dysplasia -- genetics
- Chromosome Breakpoints
- Chromosome Mapping
- Chromosomes, Human
- Cleidocranial Dysplasia -- genetics
- Core Binding Factor Alpha 1 Subunit -- genetics
- Craniofacial Abnormalities -- genetics
- Female
- High-Throughput Nucleotide Sequencing -- methods
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- SOX9 Transcription Factor -- genetics
- Translocation, Genetic
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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