Publications by authors named "Emily W Modlin"
Am J Med Genet A
September 2022
Article Synopsis
- Proteus syndrome (PS) is a rare disorder caused by a specific genetic mutation in the AKT1 gene, leading to abnormal growth patterns that typically emerge during early childhood.
- A 55-year-old woman with PS first exhibited symptoms at 19, including a type of skin growth, and later developed breast tumors that shared the same AKT1 mutation.
- The study also identified other genetic changes linked to tumor growth, suggesting a possible mechanism for how tumors develop in patients with PS, which broadens the understanding of this rare condition.
