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
- 1 May 2007
- journal article
- case report
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 80 (5), 988-993
- https://doi.org/10.1086/515582
Abstract
No abstract availableKeywords
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