The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

doi:10.1002/ajmg.a.34070

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Article

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

American journal of medical genetics. Part A - 1 Jul 2011

Marangi Giuseppe, Ricciardi Stefania, Orteschi Daniela, Lattante Serena, Murdolo Marina, Dallapiccola Bruno, Biscione Chiara, Lecce Rosetta, Chiurazzi Pietro, Romano Corrado, Greco Donatella, Pettinato Rosa, Sorge Giovanni, Pantaleoni Chiara, Alfei Enrico, Toldo Irene, Magnani Cinzia, Bonanni Paolo, Martinez Federica, Serra Gigliola, Battaglia Domenica, Lettori Donatella, Vasco Gessica, Baroncini Anna, Daolio Cecilia, Zollino Marcella

Abstract excerpt

Pitt-Hopkins syndrome (PTHS) is characterized by severe intellectual disability, typical facial gestalt and additional features, such as breathing anomalies. Following the discovery of the causative haploinsufficiency of transcription factor 4 (TCF4), about 60 patients have been reported. We looked for TCF4 mutations in 63 patients with a suspected PTHS. Haploinsufficiency of TCF4 was identified in 14 patients,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 21671391
DOI: 10.1002/ajmg.a.34070

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TCF4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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