Duplication 2p25 in a child with clinical features of CHARGE syndrome. [electronic resource]
Producer: 20170104Description: 1148-54 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- genetics
- CHARGE Syndrome -- genetics
- Child
- Chromosomes, Human, Pair 2 -- genetics
- DNA Copy Number Variations -- genetics
- DNA Helicases -- genetics
- DNA-Binding Proteins -- genetics
- Female
- Gene Duplication -- genetics
- Genetic Testing
- Humans
- Mutation
- SOXC Transcription Factors -- biosynthesis
- Trisomy -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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