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Article Dans Une Revue Journal of Medical Genetics Année : 2009

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the NF1 phenotype

Résumé

Mutations of the gene, one of a family of Sprouty (Spry)/Spred proteins known to 'down-regulate' mitogen-activated protein kinase (MAPK) signalling, have been identified in patients with a mild neurofibromatosis type1 phenotype with pigmentary changes but no neurofibromas (Legius syndrome).To ascertain the frequency of mutations as a cause of this phenotype and to investigate whether other genes may be causal, a panel of unrelated mild NF1 patients were screened for mutations of the and the genes.
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Dates et versions

hal-00552686 , version 1 (06-01-2011)

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Gill Spurlock, Emma Bennett, Nadia Chuzhanova, Nick Thomas, Hoi Jim, et al.. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the NF1 phenotype. Journal of Medical Genetics, 2009, 46 (7), pp.431. ⟨10.1136/jmg.2008.065474⟩. ⟨hal-00552686⟩

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