@article{kuentz:hal-01560452, TITLE = {{Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.}}, AUTHOR = {Kuentz, Paul and Saint-Onge, Judith and Duffourd, Yannis and Courcet, Jean-Beno{\^i}t and Carmignac, Virginie and Jouan, Thibaut and Sorlin, Arthur and Abasq Thomas, Claire and Albuisson, Juliette and Amiel, Jeanne and Amram, Daniel and Arpin, St{\'e}phanie and Attie-Bitach, Tania and Bahi-Buisson, Nadia and Barbarot, S{\'e}bastien and Baujat, Genevieve and Bessis, Didier and Boccara, Olivia and Bonniere, Maryse and Boute, Odile and Bursztejn, Anne-Claire and Chiaverini, Christine and Cormier-Daire, Val{\'e}rie and Coubes, Christine and Delobel, Bruno and Edery, Patrick and El Chehadeh, Salima and Francannet, Christine and Genevieve, David and Goldenberg, Alice and Haye, Damien and Isidor, Bertrand and Jacquemont, Marie-Line and Khau van Kien, Philippe and Lacombe, Didier and Martin, Ludovic and Martinovic, Jelena and Maruani, Annabel and Mathieu-Dramard, Mich{\`e}le and Mazereeuw-Hautier, Juliette and Michot, Caroline and Mignot, Cyril and Miquel, Juliette and Morice Picard, Fanny and Petit, Florence and Phan, Alice and Rossi, Massimiliano and Touraine, Renaud and Verloes, Alain and Vincent, Marie and Vincent-Delorme, Catherine and Whalen, Sandra and Willems, Marjolaine and Marle, Nathalie and Lehalle, Daphne and Thevenon, Julien and Thauvin-Robinet, Christel and Olivier-Faivre, Laurence and Vabres, Pierre and Riviere, Jean-Baptiste}, URL = {https://u-bourgogne.hal.science/hal-01560452}, JOURNAL = {{Genetics in Medicine}}, PUBLISHER = {{Nature Publishing Group}}, VOLUME = {19}, NUMBER = {9}, PAGES = {989-997}, YEAR = {2017}, MONTH = Sep, DOI = {10.1038/gim.2016.220}, KEYWORDS = {PIK3CA ; Molecular diagnosis ; Mosaicism ; Next-generation sequencing ; PIK3CA related overgrowth spectrum}, HAL_ID = {hal-01560452}, HAL_VERSION = {v1}, }