{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:22:26Z","timestamp":1777803746029,"version":"3.51.4"},"reference-count":16,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2012,12,17]],"date-time":"2012-12-17T00:00:00Z","timestamp":1355702400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:p>Pitt-Hopkins syndrome is characterized by mental retardation, hyperventilation, and dysmorphic features due to TCF4 mutations. We report a case of Pitt-Hopkins syndrome in a 2\u00bd-year-old boy presenting with psychomotor retardation, recurrent respiratory tract infections, and dysmorphic features with absence of hyperventilation or other breathing abnormalities. Comparative genomic hybridization and quantitative real-time polymerase chain reaction were used to confirm TCF4 haploinsufficiency. Pitt-Hopkins syndrome is a rare debilitating disease that should be in the differential diagnosis of other neurodevelopmental disorders characterized by mental retardation and hypotonicity despite the absence of hyperapnea and seizures. Quantitative real-time polymerase chain reaction is another method to identify TCF4 and to confirm Pitt-Hopkins syndrome diagnosis.<\/jats:p>","DOI":"10.1177\/0883073812468054","type":"journal-article","created":{"date-parts":[[2012,12,17]],"date-time":"2012-12-17T20:59:48Z","timestamp":1355777988000},"page":"1698-1701","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["A Case of Pitt-Hopkins Syndrome With Absence of Hyperventilation"],"prefix":"10.1177","volume":"28","author":[{"given":"Adlette","family":"Inati","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Lebanese American University and University Medical Center Rizk Hospital, Beirut, Lebanon"},{"name":"Department of Pediatrics, Rafic Hariri University Hospital, Beirut, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hussein A.","family":"Abbas","sequence":"additional","affiliation":[{"name":"American 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