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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.

Research paper by Cagatay C Oktenli, Mutlu M Saglam, Seref S Demirbas, Peter P Thompson, Meena M Upadhyaya, Claudia C Consoli, Hakan H Ulucan, Cem C Koz, Ali Hakan AH Durukan, Ali A Bozkurt, Bayram B Koc, Ismail Hakki IH Kocar, Davut D Gul

Indexed on: 18 Oct '03Published on: 18 Oct '03Published in: Clinical dysmorphology



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.