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 by Amiel Jeanne, Rio Marlene, de Pontual Loic, Redon Richard, Malan Valerie, Boddaert Nathalie, Plouin Perrine, Carter Nigel P, Lyonnet Stanislas, Munnich Arnold, Colleaux Laurence in American journal of human genetics (2007).

[PMID: 17436254] PubMed


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