Functional characterization of TCF4 mutations causing Pitt–Hopkins syndrome
✍ Scribed by Forrest, M.P.; Chapman, R.M.; Tinsley, C.L.; Doyle, A.M.; Blake, D.J.
- Book ID
- 122939442
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 53 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0736-5748
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Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report a series of 13 novel PHS cases with a TCF4 mutation and show that EEG, brain magnetic resonance imagain (MRI), and immunological investigations provide valuable additi
Pitt-Hopkins syndrome (PTHS), characterized by severe intellectual disability and typical facial gestalt, is part of the clinical spectrum of Rett-like syndromes. TCF4, encoding a basic helix-loop-helix (bHLH) transcription factor, was identified as the disease-causing gene with de novo molecular de