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Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

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author: Didier Lacombe  Myriam Oufadem  Muriel Holder-Espinasse  Clarisse Baumann  Odile Boute-Benejean  Géraldine Goudefroye  Roseline Caumes  Jean-Luc Alessandri  Sylvie Manouvrier-Hanu  Charles Decaestecker  Tania Attié-Bitach  Valérie Malan  Alice Goldenberg  Alain Verloes  Loic de Pontual  Christopher T Gordon  Jeanne Amiel  Sandrine Marlin  Daphné Lehalle  Stanislas Lyonnet  Arnold Munnich  Robert Smigiel  Michèle Mathieu-Dramard  Genevieve Baujat  Michel Vekemans  Marie-Line Jacquemont  Laurent Pasquier  Florence Petit  Christel Thauvin-Robinet 

Publication date March 5, 2014
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