(Q45013339)

English

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

scientific article

Statements

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management (English)
Magali Avila
David A Dyment
Judith St-Onge
Brian H Y Chung
Sahar Mansour
Assunta Albanese
Sixto Garcia
David Ortiz Martin
Ainhoa Abad Lopez
Tor Claudi
Rainer König
Susan M White
Sarah L Sawyer
Jon A Bernstein
Leah Slattery
Rebekah K Jobling
Grace Yoon
Cynthia J Curry
Martine Le Merrer
Bernard Le Luyer
Michèle Mathieu-Dramard
Sylvie Odent
Julien Thevenon
Martine Laville
Yves Reznik
Cédric Fagour
Marie-Laure Nunes
Dorothée Delesalle
Sylvie Manouvrier
Olivier Lascols
Frédéric Huet
Christine Binquet
Laurence Faivre
Jean-Baptiste Rivière
Corinne Vigouroux
Christel Thauvin-Robinet
24 October 2015

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