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Article

Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1.

European journal of human genetics : EJHG - 1 Nov 2022

Alesi Viola, Lepri Francesca Romana, Dentici Maria Lisa, Genovese Silvia, Sallicandro Ester, Bejo Kristel, Dallapiccola Bruno, Capolino Rossella, Novelli Antonio, Digilio Maria Cristina

Abstract excerpt

Neurofibromatosis type 1 (NF1), an autosomal dominant disorder characterized by skin pigmentary lesions and multiple cutaneous neurofibromas, is caused by neurofibromin 1 (NF1) loss of function variants. Currently, a molecular diagnosis is frequently established using a multistep protocol based on cDNA and gDNA sequence analysis and/or Multiplex Ligation-dependent Probe Amplification (MLPA) assay on genomic DNA,...

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Identifiers

PMID: 35879407
DOI: 10.1038/s41431-022-01153-3
PMCID: PMC9626576

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