title: A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features.
abstract: A 20 year old male patient with sporadic neurofibromatosis type 1 (NF1) is described with a large deletion (1.5 Mb) involving the NF1 gene, dysmorphism, mental retardation, and unusual ocular and skeletal features. Several NF1 patients with a large NF1 deletion and associated dysmorphism, and a large number of neurofibromas for their age have been described. This study indicates that such large deletions can also involve flanking loci which affect ocular and skeletal development.
authors.forename: Cagatay
authors.initials: C
authors.lastname: Oktenli
authors.forename: Mutlu
authors.initials: M
authors.lastname: Saglam
authors.forename: Seref
authors.initials: S
authors.lastname: Demirbas
authors.forename: Peter
authors.initials: P
authors.lastname: Thompson
authors.forename: Meena
authors.initials: M
authors.lastname: Upadhyaya
authors.forename: Claudia
authors.initials: C
authors.lastname: Consoli
authors.forename: Hakan
authors.initials: H
authors.lastname: Ulucan
authors.forename: Cem
authors.initials: C
authors.lastname: Koz
authors.forename: Ali Hakan
authors.initials: AH
authors.lastname: Durukan
authors.forename: Ali
authors.initials: A
authors.lastname: Bozkurt
authors.forename: Bayram
authors.initials: B
authors.lastname: Koc
authors.forename: Ismail Hakki
authors.initials: IH
authors.lastname: Kocar
authors.forename: Davut
authors.initials: D
authors.lastname: Gul
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000473:pathology