Condition: Multiple nevi
rs397507547
in
PTPN11
gene and
Multiple nevi
PMID 15834506
2005 Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.
PMID 11704759
2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.