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
Functional analysis of TCF4 missense mutations that cause Pitt–Hopkins syndrome
✍ Scribed by Marc Forrest; Ria M. Chapman; A. Michelle Doyle; Caroline L. Tinsley; Adrian Waite; Derek J. Blake
- Book ID
- 112099819
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 645 KB
- Volume
- 33
- Category
- Article
- ISSN
- 1059-7794
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