{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:02:44Z","timestamp":1791118964845,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,6,15]],"date-time":"2004-06-15T00:00:00Z","timestamp":1087257600000},"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":[[2004,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital central hypoventilation syndrome, which is related to abnormal autonomic control of breathing and typically manifests at birth, was recently associated with PHOX2B gene mutations. In contrast, central hypoventilation with later onset constitutes a poorly defined group of unknown etiology. Here, we report on the identification of a de novo heterozygous PHOX2B mutation in a patient with central hypoventilation manifesting in childhood. This finding suggests that some of these cases may be genetically determined and allelic to congenital central hypoventilation syndrome. Pediatr Pulmonol. 2004; 38:349\u2013351. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ppul.20074","type":"journal-article","created":{"date-parts":[[2004,6,15]],"date-time":"2004-06-15T20:14:42Z","timestamp":1087330482000},"page":"349-351","source":"Crossref","is-referenced-by-count":41,"title":["PHOX2B gene mutation in a patient with late\u2010onset central hypoventilation"],"prefix":"10.1002","volume":"38","author":[{"given":"Ha","family":"Trang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9atrice","family":"Laudier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Trochet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Gaultier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne","family":"Amiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,6,15]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1099-0496(199810)26:4<273::AID-PPUL7>3.0.CO;2-C"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1130"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-1036-z"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20527"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/20700"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1445-5994.1977.tb04396.x"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1378\/chest.124.4.1393"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1099-0496(200001)29:1<62::AID-PPUL10>3.0.CO;2-M"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.20074","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.20074","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T03:47:40Z","timestamp":1700192860000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.20074"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6,15]]},"references-count":8,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,10]]}},"alternative-id":["10.1002\/ppul.20074"],"URL":"https:\/\/doi.org\/10.1002\/ppul.20074","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,6,15]]}}}