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PTHS is due to heterozygous loss\u2010of\u2010function variants in the <jats:italic>TCF4<\/jats:italic> gene (transcription factor 4, MIM #602272) encoding for a basic helix\u2013loop\u2013helix transcription factor. <jats:italic>TCF4<\/jats:italic> is highly expressed during early development of the nervous system, and it is involved in cellular differentiation and proliferation. Since the first clinical description in 1978, less than 200 PTHS patients have been described. A comprehensive phenotype, especially regarding cancer predisposition, is not yet well defined. We report the case of a 7\u2010year\u2010old boy affected by PTHS with a 4\u2010week history of progressive swelling of the frontal bones diagnosed with Langerhans cell histiocytosis.<\/jats:p>","DOI":"10.1002\/ajmg.a.61840","type":"journal-article","created":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T09:03:36Z","timestamp":1600419816000},"page":"2746-2750","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Langerhans cell histiocytosis in a young patient with Pitt\u2013Hopkins syndrome"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7409-8299","authenticated-orcid":false,"given":"Marina","family":"Macchiaiolo","sequence":"first","affiliation":[{"name":"Rare Diseases and Genetic Unit, University Department of Paediatrics, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0610-325X","authenticated-orcid":false,"given":"Filippo Maria","family":"Panfili","sequence":"additional","affiliation":[{"name":"Pediatric Academic Department, University of Rome Tor Vergata  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michaela Veronika","family":"Gonfiantini","sequence":"additional","affiliation":[{"name":"Rare Diseases and Genetic Unit, University Department of Paediatrics, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7946-6422","authenticated-orcid":false,"given":"Gerarda","family":"Mastrogiorgio","sequence":"additional","affiliation":[{"name":"Rare Diseases and Genetic Unit, University Department of Paediatrics, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7944-8400","authenticated-orcid":false,"given":"Paola Sabrina","family":"Buonuomo","sequence":"additional","affiliation":[{"name":"Rare Diseases and Genetic Unit, University Department of Paediatrics, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Gaspari","sequence":"additional","affiliation":[{"name":"Hematology\/Oncology, Cellular and Gene Therapy, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Longo","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit, Imaging Department, Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4871-9519","authenticated-orcid":false,"given":"Marcella","family":"Zollino","sequence":"additional","affiliation":[{"name":"Fondazione Policlinico Universitario A. 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