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
The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria
β Scribed by Giuseppe Marangi; Stefania Ricciardi; Daniela Orteschi; Serena Lattante; Marina Murdolo; Bruno Dallapiccola; Chiara Biscione; Rosetta Lecce; Pietro Chiurazzi; Corrado Romano; Donatella Greco; Rosa Pettinato; Giovanni Sorge; Chiara Pantaleoni; Enrico Alfei; Irene Toldo; Cinzia Magnani; Paolo Bonanni; Federica Martinez; Gigliola Serra; Domenica Battaglia; Donatella Lettori; Gessica Vasco; Anna Baroncini; Cecilia Daolio; Marcella Zollino
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 806 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
This report describes two unrelated patients with obesity, mental retardation, body asymmetry, and muscle weakness. Several obesity syndromes with common characteristics have been described. Findings in our patients, in addition to those of the previously reported cases, include body asymmetry, char