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Article

Neurological comorbidities and novel mutations in Turkish cases with neurofibromatosis type 1.

Ideggyogyaszati szemle - 30 Jul 2023

Evlice Ahmet, Bişgin Atıl, Koç Filiz

Abstract excerpt

Background and purpose: <p>Neurofibromatosis type 1 (NF1) is a rare, autosomal dominant multisystemic disease. The NF1 gene is localized on chromosome 17q11.2. Patients with NF1 have different clinical presentations and comorbidities. The aim of the present study is to determine the novel mutations and neurological comorbidities of NF1.</p>. Methods: <p>Patients who were diagnosed with NF1 by clinical...

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PMID: 37471196
DOI: 10.18071/isz.76.0270

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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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