Condition: Poor respiratory effort
rs104894229 in
LRRC56;HRAS gene and
Poor respiratory effort
PMID 21850009 2011 HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.
PMID 19382114 2009 Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
PMID 22926243 2012 Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.