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<i>SPRED1</i> mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

13 May 2009

Abstract excerpt

OBJECTIVE: Mutations of the SPRED1 gene, one of a family of Sprouty (Spry)/Spred proteins known to "downregulate" mitogen activated protein kinase (MAPK) signalling, have been identified in patients with a mild neurofibromatosis type 1 (NF1) phenotype with pigmentary changes but no neurofibromas (Legius syndrome).To ascertain the frequency of SPRED1 mutations as a cause of this phenotype and to investigate...

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PMID: 19443465
DOI: 10.1136/jmg.2008.065474

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<i>SPRED1</i> mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotypePMID 19443465Read ↗

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