{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T19:28:04Z","timestamp":1790191684154,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2008,9,10]],"date-time":"2008-09-10T00:00:00Z","timestamp":1221004800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2008,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the case of a 15\u2010month\u2010old male suffering from Late Onset Congenital Central Hypoventilation Syndrome and recto\u2010sigmoid Hirschsprung's disease, an association that has not been reported thus far. Nevertheless, our patient showed a missense mutation of the <jats:italic>PHOX2B<\/jats:italic> gene already known in isolated late onset central hypoventilation, resulting in a substitution of the Ala140 residue with a Glu residue (p.A140E). The present association of LO\u2010CHS and HSCR in a patient harboring a rare and atypical <jats:italic>PHOX2B<\/jats:italic> mutation allows to refine the mutational spectrum of this disease and suggests individualized ventilatory care along with specific surgical and oncological approaches. Pediatr Pulmonol. 2008; 43:1036\u20131039. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ppul.20892","type":"journal-article","created":{"date-parts":[[2008,9,10]],"date-time":"2008-09-10T19:11:15Z","timestamp":1221073875000},"page":"1036-1039","source":"Crossref","is-referenced-by-count":13,"title":["A novel missense mutation in the <i>PHOX2B<\/i>gene is associated with late onset central hypoventilation syndrome"],"prefix":"10.1002","volume":"43","author":[{"given":"Sara","family":"Parodi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Pia","family":"Baglietto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessio Pini","family":"Prato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Caroli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Garaventa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Ceccherini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"Ottonello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,9,10]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.160.1.16010"},{"key":"e_1_2_1_3_2","first-page":"373","article-title":"J Med Genet","volume":"41","author":"Matera I","year":"2004","journal-title":"PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome."},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/428366"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200602-305OC"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.20074"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200605-607CR"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9516"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1130"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-1036-z"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20527"},{"key":"e_1_2_1_12_2","first-page":"252","article-title":"PHOX2B Germline and somatic mutations in Late\u2010Onset Central Hypoventilation Syndrome","volume":"18","author":"Trochet D","year":"2008","journal-title":"Am J Respir Crit Care Med"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8817.2005.00196.x"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.040113"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1210659"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1086\/383253"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.20892","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.20892","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T10:05:33Z","timestamp":1699956333000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.20892"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,10]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2008,10]]}},"alternative-id":["10.1002\/ppul.20892"],"URL":"https:\/\/doi.org\/10.1002\/ppul.20892","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9,10]]}}}