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Article

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

European journal of human genetics : EJHG - 1 Jun 2015

Emmerich Denise, Zemojtel Tomasz, Hecht Jochen, Krawitz Peter, Spielmann Malte, Kühnisch Jirko, Kobus Karolina, Osswald Monika, Heinrich Verena, Berlien Peter, Müller Ute, Mautner Victor-F, Wimmer Katharina, Robinson Peter N, Vingron Martin, Tinschert Sigrid, Mundlos Stefan, Kolanczyk Mateusz

Abstract excerpt

Neurofibromatosis type 1 (NF1) (MIM#162200) is a relatively frequent genetic condition that predisposes to tumor formation. The main types of tumors occurring in NF1 patients are cutaneous and subcutaneous neurofibromas, plexiform neurofibromas, optic pathway gliomas, and malignant peripheral nerve sheath tumors. To search for somatic mutations in cutaneous (dermal) neurofibromas, whole-exome sequencing (WES) was...

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Identifiers

PMID: 25293717
DOI: 10.1038/ejhg.2014.210
PMCID: PMC4795057

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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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