Work

Unmasking NF1 mosaicism: optical genome mapping identifies a novel t(15;17) translocation in melanocytes

Year: 2026

Type: article

Study design: Case Report

Source: Journal of Medical Genetics

DOI: 10.1136/jmg-2026-111525

Authors: Joséphine Blancke, Suzanne Vanhauwaert, Stijn Van de Sompele, Kathleen BM Claes, Bert Callewaert, Lien Depaepe, Sandra Janssens, Sofie De Schepper, Siebe Loontiens, Lore Pottie, Aude Beyens

Institutions: Ghent University Hospital, Ghent University, AZ Sint-Jan

Language: English

Topic: Neurofibromatosis and Schwannoma Cases

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7161485261

FWCI: 4.07

Cites: 20

Cited by: 1

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