Condition: Blepharoptosis
rs779027563 in
CNTNAP1 gene and
Blepharoptosis
PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
rs121918455 in
PTPN11 gene and
Blepharoptosis
PMID 19077116 2009 Genotype differences in cognitive functioning in Noonan syndrome.
PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
PMID 16124853 2005 Noonan syndrome and related disorders: genetics and pathogenesis.
rs1563686762 in
RAD21;UTP23 gene and
Blepharoptosis
PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
rs137852813 in
SOS1 gene and
Blepharoptosis
PMID 17586837 2007 SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
PMID 19953625 2010 Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
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 20683980 2010 Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.