Phenotype expansion and development in Kosaki overgrowth syndrome. [electronic resource]
Producer: 20190930Description: 919-924 p. digitalISSN:- 1399-0004
- Adolescent
- Child
- Child, Preschool
- Exome -- genetics
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Megalencephaly -- genetics
- Musculoskeletal Abnormalities -- genetics
- Mutation
- Phenotype
- Receptor, Platelet-Derived Growth Factor beta -- genetics
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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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