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Genetics in Medicine, ISSN 1098-3600, 2017, Volume 19, Issue 12, pp. 1376 - 1379
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2677 - 2684
Proteus syndrome (PS) is a rare disorder caused by a mosaic AKT1 variant that comprises patchy overgrowth of tissues derived from all three germinal layers... 
vascular malformations | overgrowth syndromes | Proteus syndrome | AKT1 mutation | CRITERIA | DIFFERENTIAL-DIAGNOSIS | CYST | HEMANGIOMA | COLOR-DOPPLER | LARGE COHORT | SPLEEN | LIVER | MUTATION | GENETICS & HEREDITY | Spleen | Thrombocytopenia | Splenomegaly | AKT1 protein | Laboratories | Liver | Viscera | Portal vein
Journal Article
Cancer Research, ISSN 0008-5472, 07/2017, Volume 77, Issue 13 Supplement, pp. 5646 - 5646
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 928 - 933
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2011, Volume 365, Issue 7, pp. 611 - 619
Journal Article
American journal of medical genetics. Part C, Seminars in medical genetics, 09/2019
Increased risk of thromboembolism has been recognized in individuals with mosaic overgrowth disorders, Proteus syndrome (PS) and PIK3CA-related overgrowth... 
Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1034 - 1044
Journal Article
Clinical Endocrinology and Metabolism, ISSN 0021-972X, 03/2011, Volume 96, Issue 3, pp. 879 - 880
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, p. 295
A family with an X-linked lethal disorder involving cleft palate, neonatal seizures, contractures, central nervous system (CNS) structural malformations, and... 
Phosphatidylinositol | Enzymes | Synthesis | Gene mutations | Causes of | Genetic aspects | Research | Hemoglobinuria, Paroxysmal | Health aspects
Journal Article
by Cogné, Benjamin and Ehresmann, Sophie and Beauregard-Lacroix, Eliane and Rousseau, Justine and Besnard, Thomas and Garcia, Thomas and Petrovski, Slavé and Avni, Shiri and McWalter, Kirsty and Blackburn, Patrick R and Sanders, Stephan J and Uguen, Kévin and Harris, Jacqueline and Cohen, Julie S and Blyth, Moira and Lehman, Anna and Berg, Jonathan and Li, Mindy H and Kini, Usha and Joss, Shelagh and von der Lippe, Charlotte and Gordon, Christopher T and Humberson, Jennifer B and Robak, Laurie and Scott, Daryl A and Sutton, Vernon R and Skraban, Cara M and Johnston, Jennifer J and Poduri, Annapurna and Nordenskjöld, Magnus and Shashi, Vandana and Gerkes, Erica H and Bongers, Ernie M.H.F and Gilissen, Christian and Zarate, Yuri A and Kvarnung, Malin and Lally, Kevin P and Kulch, Peggy A and Daniels, Brina and Hernandez-Garcia, Andres and Stong, Nicholas and McGaughran, Julie and Retterer, Kyle and Tveten, Kristian and Sullivan, Jennifer and Geisheker, Madeleine R and Stray-Pedersen, Asbjorg and Tarpinian, Jennifer M and Klee, Eric W and Sapp, Julie C and Zyskind, Jacob and Holla, Øystein L and Bedoukian, Emma and Filippini, Francesca and Guimier, Anne and Picard, Arnaud and Busk, Øyvind L and Punetha, Jaya and Pfundt, Rolph and Lindstrand, Anna and Nordgren, Ann and Kalb, Fayth and Desai, Megha and Ebanks, Ashley Harmon and Jhangiani, Shalini N and Dewan, Tammie and Coban Akdemir, Zeynep H and Telegrafi, Aida and Zackai, Elaine H and Begtrup, Amber and Song, Xiaofei and Toutain, Annick and Wentzensen, Ingrid M and Odent, Sylvie and Bonneau, Dominique and Latypova, Xénia and Deb, Wallid and Redon, Sylvia and Redon, Richard and Bilan, Frédéric and Legendre, Marine and Troyer, Caitlin and Whitlock, Kerri and Caluseriu, Oana and Murphree, Marine I and Pichurin, Pavel N and Agre, Katherine and Gavrilova, Ralitza and Rinne, Tuula and Park, Meredith and Shain, Catherine and Heinzen, Erin L and Xiao, Rui and Amiel, Jeanne and Lyonnet, Stanislas and Isidor, Bertrand and Biesecker, Leslie G and Lowenstein, Dan and Posey, Jennifer E and Denommé-Pichon, Anne-Sophie and ... and Deciphering Dev Disorders Study and CAUSES Study and Deciphering Developmental Disorders study
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 530 - 541
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 10/2008, Volume 9, Issue 1, pp. 92 - 92
Journal Article