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Article

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

Clinical genetics - 1 Apr 2014

van Minkelen R, van Bever Y, Kromosoeto J N R, Withagen-Hermans C J, Nieuwlaat A, Halley D J J, van den Ouweland A M W

Abstract excerpt

NF1 mutations are the underlying cause of neurofibromatosis type 1 (NF1), a neuro-cardio-facio-cutaneous syndrome (NCFC). Because of the clinical overlap between NCFCs, genetic analysis of NF1 is necessary to confirm a clinical diagnosis NF1. This report describes the clinical and genetic finding...

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Identifiers

PMID: 23656349
DOI: 10.1111/cge.12187

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23656349-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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