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Human molecular genetics, ISSN 0964-6906, 06/2019
Proteus syndrome is a mosaic, progressive overgrowth disorder caused by a somatic activating variant c.49G>A p.(E17K) in AKT1. The presentation in affected... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 484 - 491
Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function variant. There are no effective treatments for Proteus... 
miransertib | phase I study | Proteus syndrome | overgrowth | connective tissue nevus | mosaicism | AKT1 | PAIN | MUTATION | GENETICS & HEREDITY | Genetic aspects | Pharmacology | Research | Drug therapy | Index Medicus
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 04/2018, Volume 78, Issue 4, pp. 725 - 732
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2011, Volume 365, Issue 7, pp. 611 - 619
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 928 - 933
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 579 - 587
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2014, Volume 164, Issue 7, pp. 1713 - 1733
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2016, Volume 170, Issue 10, pp. 2605 - 2610
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 04/2018, Volume 128, Issue 4, pp. 1496 - 1508
Journal Article