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Article

Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Dec 2011

Terzi Yunus Kasim, Sirin Burcu, Serdaroglu Esra, Anlar Banu, Aysun Sabiha, Hosgor Guzen, Arslan Elif Acar, Ayter Sukriye

Abstract excerpt

INTRODUCTION: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by café-au-lait spots, neurofibromas, skinfold freckles, Lisch nodules, bone deformities, learning disabilities, and predisposition to neoplasms. It is caused by various mutations of the NF1 gene. Recently a 3-bp in-frame deletion in exon 17, c.2970-2972 delAAT mutation, has been associated with a milder phenotype of NF1...

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PMID: 21732117
DOI: 10.1007/s00381-011-1512-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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