Severe gynaecological involvement in Proteus Syndrome
| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | Severe gynaecological involvement in Proteus Syndrome |
| Type de publication | Journal Article |
| Year of Publication | 2019 |
| Auteurs | Severino-Freire M, Maza A, Kuentz P, Duffourd Y, Faivre L, Brazet E, Chassaing N, Mery-Lemarche E, Vabres P, Mazereeuw-Hautier J |
| Journal | EUROPEAN JOURNAL OF MEDICAL GENETICS |
| Volume | 62 |
| Pagination | 270-272 |
| Date Published | APR |
| Type of Article | Article |
| ISSN | 1769-7212 |
| Mots-clés | AKT1 mutation, Gynaecological involvement, Proteus syndrome |
| Résumé | 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. |
| DOI | 10.1016/j.ejmg.2018.08.003 |