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

Polubothu, S; Al-Olabi, L; Wilson, L; Chong, WK; Kinsler, VA; (2016) Extending the spectrum of AKT1 mosaicism - not just the Proteus syndrome. British Journal of Dermatology , 175 (3) pp. 612-614. 10.1111/bjd.14478. Green open access

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Abstract

A five-year-old girl was referred to our department for evaluation of a pigmented birthmark on her right cheek, present unchanged since birth. There was no other past medical history of note and no family history of relevant problems. Cutaneous examination revealed a pigmented keratinocytic epidermal naevus following fine Blaschko's lines on the right cheek and neck (Figure 1), and a solitary café-au-lait macule of 1cm on the lower leg.

Type: Article
Title: Extending the spectrum of AKT1 mosaicism - not just the Proteus syndrome
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/bjd.14478
Publisher version: http://dx.doi.org/10.1111/bjd.14478
Language: English
Additional information: © 2016 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1492791
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