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Article

Neurofibromatosis: novel and recurrent mutations in Turkish patients.

Pediatric neurology - 1 Dec 2007

Terzi Yunus Kasim, Oguzkan Sibel, Anlar Banu, Aysun Sabiha, Ayter Sukriye

Abstract excerpt

Neurofibromatosis type 1 is an autosomal-dominant disorder affecting approximately 1 in 3500 births. It is characterized by café-au-lait spots, neurofibromas, axillary/inguinal freckling, and skeletal and neurologic signs. It exhibits full penetrance and a high mutation rate: 50% of neurofibromatosis type 1 patients represent a new mutation. The gene, located at 17q11.2, contains 60 exons that encode a 11-13-kb...

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Identifiers

PMID: 18021924
DOI: 10.1016/j.pediatrneurol.2007.07.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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