Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome

Br J Dermatol. 2016 Sep;175(3):612-4. doi: 10.1111/bjd.14478. Epub 2016 Jun 23.

Authors

S Polubothu¹, L Al-Olabi², L Wilson³, W K Chong⁴, V A Kinsler^{2

5}

Affiliations

¹ Guy's and St Thomas' NHS Foundation Trust, London, U.K. mpolubothu@gmail.com.
² Genetics and Genomic Medicine, UCL Institute of Child Health, London, U.K.
³ Clinical Genetics, Great Ormond St Hospital for Children, London, U.K.
⁴ Department of Radiology, Great Ormond St Hospital for Children, London, U.K.
⁵ Paediatric Dermatology, Great Ormond St Hospital for Children, London, U.K.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Cheek
Child, Preschool
Facial Neoplasms / genetics*
Female
Heterozygote
Humans
Leg
Magnetic Resonance Imaging
Mosaicism*
Mutation, Missense / genetics*
Neck
Nevus, Pigmented / genetics
Phenotype
Proteus Syndrome / genetics*
Proto-Oncogene Proteins c-akt / genetics*

Substances

AKT1 protein, human
Proto-Oncogene Proteins c-akt