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
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| Description | scientific article |
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author: Marlene Rio Valérie Malan Loic de Pontual Jeanne Amiel Nigel Carter Laurence Colleaux Stanislas Lyonnet Arnold Munnich Nathalie Boddaert Richard Redon |
| Publication date | May 2007 |
| Language | English |
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| Missing/wrong data? | Edit Wikidata item |