Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

doi:10.1016/j.ejmg.2016.11.001

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Article

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

European journal of medical genetics - 1 Feb 2017

Calì Francesco, Chiavetta Valeria, Ruggeri Giuseppa, Piccione Maria, Selicorni Angelo, Palazzo Daniela, Bonsignore Maria, Cereda Anna, Elia Maurizio, Failla Pinella, Figura Maria Grazia, Fiumara Agata, Maitz Silvia, Luana Mandarà Giuseppa Maria, Mattina Teresa, Ragalmuto Alda, Romano Corrado, Ruggieri Martino, Salluzzo Roberto, Saporoso Antonino, Schepis Carmelo, Sorge Giovanni, Spanò Maria, Tortorella Gaetano, Romano Valentino

Abstract excerpt

Neurofibromatosis type 1 (NF1) is caused by mutations of the NF1 gene and is one of the most common human autosomal dominant disorders. The patient shows different signs on the skin and other organs from early childhood. The best known are six or more café au lait spots, axillary or inguinal freckling, increased risk of developing benign nerve sheath tumours and plexiform neurofibromas. Mutation detection is...

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PMID: 27838393
DOI: 10.1016/j.ejmg.2016.11.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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