| Literature DB >> 30103035 |
Maella Severino-Freire1, Aude Maza2, Paul Kuentz3, Yannis Duffourd3, Laurence Faivre4, Edith Brazet5, Nicolas Chassaing6, Eliane Mery-Lemarche7, Pierre Vabres8, Juliette Mazereeuw-Hautier2.
Abstract
Proteus Syndrome is a rare complex overgrowth syndrome. We report a young female patient with Proteus Syndrome due to AKT1 mutation c.49G > A (p.Glu17Lys), presenting with a severe gynaecological involvement which necessitated a complete hysterectomy and a left adnexectomy. Cases of gynecological involvements in Proteus Syndrome are rare, not well known by physicians while they can be potentially severe.Entities:
Keywords: AKT1 mutation; Gynaecological involvement; Proteus syndrome
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Year: 2018 PMID： 30103035 DOI： 10.1016/j.ejmg.2018.08.003
Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708