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Identification of potential common genetic modifiers of neurofibromas: a genome wide association study in 1,333 neurofibromatosis type 1 patients

Archive ouverte | Pacot, Laurence | CCSD

International audience. BackgroundNeurofibromatosis type 1 (NF1) is characterized by the highly variable and unpredictable development of benign peripheral nerve sheath tumours: cutaneous (cNFs), subcutaneous (scNFs...

Severe phenotype in patients with large deletions of NF1

Archive ouverte | Pacot, Laurence | CCSD

International audience. Complete deletion of the NF1 gene is identified in 5–10% of patients with neurofibromatosis type 1 (NF1). Several studies have previously described particularly severe forms of the disease in...

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

Archive ouverte | Pasmant, Eric | CCSD

International audience. 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 ...

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