Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. [electronic resource]
Producer: 20061006Description: 721-726 p. digitalISSN:- 1434-5161
- Adolescent
- Adult
- Chromosomes, Human, Pair 5 -- genetics
- Gene Duplication
- Genes, Duplicate -- genetics
- Genetic Predisposition to Disease -- genetics
- Genome, Human -- genetics
- Holoprosencephaly -- genetics
- Humans
- Magnetic Resonance Imaging
- Male
- Nucleic Acid Hybridization
- Nucleophosmin
- Polydactyly -- genetics
- Ubiquitin-Protein Ligases
- beta-Transducin Repeat-Containing Proteins -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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