Condition: Noonan Syndrome 4
rs1367714753 in
SOS1 gene and
Noonan Syndrome 4
PMID 19020799 2008 PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
PMID 21387466 2011 SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
PMID 17143285 2007 Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
PMID 19438935 2009 SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.
PMID 20683980 2010 Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
PMID 20673819 2011 Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.
PMID 17143282 2007 Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
PMID 19953625 2010 Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.