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	Title	Author(s)	Issue Date
	Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management Journal:Clinical Genetics	Avila, M Dyment, DA Sagen, JV St-Onge, J Moog, U Chung, BHY Mansour, S Albanese, A Garcia,, S Ortiz Martin, D Lopez, AA Claudi, T König, R White, SM Sawyer, SL Bernstein, JA Slattery, L Jobling, RK Yoon, G Curry, CJ Le Merrer, M Le Luyer, B Héron, D Mathieu-Dramard, M Bitoun, P Odent, S Amiel, J Kuentz, P Thevenon, J Laville, M Reznik, Y Fagour, C Nunes, ML Delesalle, D Manouvrier, S Lascols, O Huet, F Binquet, C Faivre, L Rivière, JB Vigouroux, C Njølstad, PR Innes, AC Thauvin-Robinet, C	2016

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