NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

doi:10.1002/humu.21271

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Article

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

Human mutation - 1 Jun 2010

Pasmant Eric, Sabbagh Audrey, Spurlock Gill, Laurendeau Ingrid, Grillo Elisa, Hamel Marie-José, Martin Ludovic, Barbarot Sébastien, Leheup Bruno, Rodriguez Diana, Lacombe Didier, Dollfus Hélène, Pasquier Laurent, Isidor Bertrand, Ferkal Salah, Soulier Jean, Sanson Marc, Dieux-Coeslier Anne, Bièche Ivan, Parfait Béatrice, Vidaud Michel, Wolkenstein Pierre, Upadhyaya Meena, Vidaud Dominique

Abstract excerpt

In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent microdeletion types are found in most cases, with microdeletion breakpoints located in paralogous regions flanking NF1 (proximal NF1-REP-a and distal NF1-REP-c for the 1.4 Mb type-1 microdeletion, and SUZ12 and SUZ12P for the 1.2 Mb type-2...

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PMID: 20513137
DOI: 10.1002/humu.21271

Genes

SUZ12

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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