High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome

MeSH terms

• Base Sequence
• Child, Preschool
• Humans
• Male
• Mosaicism*
• Mutation*
• Nevus / complications
• Nevus / genetics*
• Nevus / pathology
• Phenotype
• Proteus Syndrome / complications
• Proteus Syndrome / diagnosis*
• Proteus Syndrome / genetics*
• Proto-Oncogene Proteins c-akt / genetics*
• Skin Neoplasms / complications
• Skin Neoplasms / genetics*
• Skin Neoplasms / pathology
• Young Adult