title: Mosaic deletion of the NF1 gene in a patient with cognitive disability and dysmorphic features but without diagnostic features of NF1.
authors.affiliation: Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.
authors.forename: Ana Lisa
authors.initials: AL
authors.lastname: Taylor Tavares
authors.forename: Lionel
authors.initials: L
authors.lastname: Willatt
authors.forename: Ruth
authors.initials: R
authors.lastname: Armstrong
authors.forename: Ingrid
authors.initials: I
authors.lastname: Simonic
authors.forename: Soo-Mi
authors.initials: SM
authors.lastname: Park
mesh_terms: D000293:Adolescent; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics*; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D017384:Sequence Deletion / Q000235:genetics*