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
✦ LIBER ✦
Proposal of a clinical score for the molecular test for Pitt–Hopkins syndrome
✍ Scribed by Giuseppe Marangi; Stefania Ricciardi; Daniela Orteschi; Romano Tenconi; Matteo Della Monica; Gioacchino Scarano; Domenica Battaglia; Donatella Lettori; Gessica Vasco; Marcella Zollino
- Book ID
- 111995241
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 669 KB
- Volume
- 158A
- Category
- Article
- ISSN
- 1552-4825
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