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Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome.

Matthew D RannalsBrady J Maher
Published in: Current genetic medicine reports (2017)
PTHS research continues to uncover mutations in TCF4 that underlie the genetic cause of this rare disease, and emerging evidence for molecular mechanisms that TCF4 regulates in brain development and neuronal function is contributing to a more complete picture of how pathology arises from this genetic basis, with important implications for the potential of future clinical care.
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