title: Differentiating between copy-number-variation and gain-of-function mutation.
authors.affiliation: Division of Medical Genetics, AI duPont Hospital for Children/Nemours, Wilmington, Delaware.|Department of Pediatrics, S. Kimmel Medical College, T. Jefferson University, Philadelphia, Pennsylvania.
authors.forename: Karen W
authors.initials: KW
authors.lastname: Gripp
mesh_terms: D056915:DNA Copy Number Variations; D018628:Gene Dosage; D006801:Humans; D009154:Mutation