PTPN11related
PTPN11related is a term used to describe conditions and traits associated with alterations in the PTPN11 gene. This gene provides instructions for making a protein called SHP-2, which plays a crucial role in cell signaling pathways that regulate cell growth, differentiation, and survival. Mutations in PTPN11 are most commonly linked to Noonan syndrome, a genetic disorder characterized by a distinctive facial appearance, short stature, heart defects, and developmental delays.
Beyond Noonan syndrome, PTPN11 mutations can also be implicated in other related disorders, sometimes referred to