Condition: Refractive amblyopia
rs397507520 in
PTPN11 gene and
Refractive amblyopia
PMID 18372317 2008 Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.