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Author

E. Castellanos

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Open access Aug 2026

NF2 lacking exon 11 induced by antisense gene therapy is able to partially recover merlin deficiency in NF2-SWN iPSC-derived spheroid model

NF2-related schwannomatosis (NF2-SWN) is an inherited autosomal dominant disorder resulting from loss-of-function mutations in the NF2 gene, for which no effective treatment is currently available. Furthermore, truncating variants in NF2 are associated with the severest phenotype compared to in-frame or missense varian...

Gemma Casals-Sendra, Ignasi Jarne-Sanz, N. Catasús et al. · 0 citations
Case report Open access Jul 2026

Pheochromocytoma as a manifestation of Neurofibromatosis type 1: Clinical presentation, diagnosis, and genetic analysis.

A 50-year-old woman with a clinical diagnosis of NF1 is presented, based on family history and multiple diagnostic criteria, who presented with episodic abdominal pain and symptoms suggestive of pheochromocytoma, which identified a pathogenic germline splice-site variant in the NF1 gene.

N. Baena-Díez, Ruth Cano-Corres, E. Castellanos et al. · 0 citations

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