Mutational spectrum in PIK3CA-Related Overgrowth Spectrum (PROS) and recommendations for molecular testing

Authors :: Kuentz , Paul
Duffourd , Yannis
St-Onge , Judith
Jouan, Thibaut
Arthur , Sorlin
Thauvin-Robinet , Christel
Thevenon , Julien
Rivière , Jean-Baptiste
Faivre , Laurence
Vabres , Pierre
université de Bourgogne, GAD
Génétique des Anomalies du Développement ( GAD )
Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC
CHU Dijon
Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon )
Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
Service de Dermatologie (CHU de Dijon)
European Soc Dermatol Res
Source :: Journal of investigative dermatology, Annual Meeting of the European-Society-for-Dermatological-Research (ESDR), Annual Meeting of the European-Society-for-Dermatological-Research (ESDR), Sep 2016, Munich, Germany. Journal of investigative dermatology, 136 (9), pp.S192-S192
Publication Year :: 2016
Publisher :: HAL CCSD, 2016.
Abstract: International audience

Subjects :: [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology
[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology
PROS
PIK3CA
ComputingMilieux_MISCELLANEOUS

Language :: English
Database :: OpenAIRE
Journal :: Journal of investigative dermatology, Annual Meeting of the European-Society-for-Dermatological-Research (ESDR), Annual Meeting of the European-Society-for-Dermatological-Research (ESDR), Sep 2016, Munich, Germany. Journal of investigative dermatology, 136 (9), pp.S192-S192
Accession number :: edsair.dedup.wf.001..05e4d3368444a4be5487406ad1fc08a8

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