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Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

Author:

Jeanne Amiel,Marlène Rio,Loïc de Pontual,Richard Redon,Valérie Malan,Nathalie Boddaert,Perrine Plouin,Nigel P. Carter,Stanislas Lyonnet,Arnold Munnich,Laurence Colleaux

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

May 2007

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