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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations

Fig. 2

Pediatric PROS patients harboring PIK3CA somatic non-hotspot mutations. a Patient P53, a 1-month-old girl with KTS and PIK3CA c.328_330delGAA;p.E110del mutation. She had right lower limb and foot overgrowth. b T2 phase of MRI showed multiple streaky vascular shadows with hypersignal pressure on subcutaneous soft tissue of buttock and proximal femur. c Patient P83, a 20-month-old boy with CLOVES and PIK3CA c.2176G > A;p.E726K mutation. He had left lower limb overgrowth, d subcutaneous mass on the left back, e and epidermal nevi on the neck

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