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Article

Detection and characterization of NF1 microdeletions by custom high resolution array CGH.

The Journal of molecular diagnostics : JMD - 1 Nov 2009

Pasmant Eric, Sabbagh Audrey, Masliah-Planchon Julien, Haddad Véronique, Hamel Marie-José, Laurendeau Ingrid, Soulier Jean, Parfait Béatrice, Wolkenstein Pierre, Bièche Ivan, Vidaud Michel, Vidaud Dominique

Abstract excerpt

In 5% to 10% of cases, neurofibromatosis type 1 is caused by microdeletions scattered across the entire NF1 gene and various neighboring genes. The phenotype appears to be more severe in patients with NF1 microdeletions than in patients with NF1 single point mutations. We have developed a new method for detecting and characterizing NF1 microdeletions based on a custom high-resolution oligonucleotide array...

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Identifiers

PMID: 19767589
DOI: 10.2353/jmoldx.2009.090064
PMCID: PMC2765750

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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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