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Author

M. Zenker

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Review Aug 2026

Neurofibromatosis Type I: Consensus on Current Terminology for Neurofibromas, as a Basis for Recommendations on the Use of MEK Inhibitors

Neurofibromatosis type 1 (NF1) is characterized by the development of neurofibromas, including cutaneous neurofibromas and plexiform neurofibromas (PNFs). Despite more than a century of clinical recognition, the terminology used to describe these tumors remains inconsistent across disciplines, particularly in pathology...

L. Baldino, J. Koeppen, Josef Kammermeier et al. · 0 citations
Open access Jul 2026

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly

NFIC-related disorder represents a novel neurodevelopmental syndrome characterized by intellectual disability and macrocephaly, highlighting the importance of NFIC dosage supporting a mirror-syndrome model.

Nathalie Vanden Eynde, L. Hérissant, E. Landais et al. · 0 citations

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