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Article

<i>SOS1</i> is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

23 Jun 2007

Abstract excerpt

BACKGROUND: Heterozygous gain-of-function mutations in various genes encoding proteins of the Ras-MAPK signalling cascade have been identified as the genetic basis of Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS). Mutations of SOS1, the gene encoding a guanine nucleotide exchange factor for Ras, have been the most recent discoveries in patients with NS, but this gene has not been studied in...

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Identifiers

PMID: 17586837
DOI: 10.1136/jmg.2007.051276

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<i>SOS1</i> is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromePMID 17586837Read ↗

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