{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T19:03:40Z","timestamp":1793387020013,"version":"4.5.0"},"reference-count":11,"publisher":"Springer Publishing Company","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatal Network"],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>Congenital central hypoventilation syndrome (CCHS) is a rare syndrome of dysfunction of the autonomic nervous system characterized by a decreased response to hypercarbia. It is a disorder in which affected individuals fail to breathe during sleep despite progressive hypercapnia and hypoxia. Infants simply fall asleep and quit breathing. They are found by their parents or caregivers blue and lifeless. CCHS is an autosomal dominant disease. It has been linked with tumors of neural crest origin, segmental aganglionosis of the colon, and diffuse autonomic dysregulation but can occur alone. Discovery of the genetic link between the paired-like homeobox 2B (<jats:italic>PHOX2B<\/jats:italic>) genetic mutations and CCHS represents a breakthrough in the diagnosis of CCHS, association of mutated alleles with disease severity, and clues to the pathophysiology responsible for the disorder. Early genetic screening and intervention can provide the families of these infants with hope for achieving a normal life.<\/jats:p>","DOI":"10.1891\/0730-0832.30.6.397","type":"journal-article","created":{"date-parts":[[2011,11,16]],"date-time":"2011-11-16T14:28:53Z","timestamp":1321453733000},"page":"397-401","source":"Crossref","is-referenced-by-count":11,"title":["Congenital Central Hypoventilation Syndrome and the <i>PHOX2B<\/i> Gene Mutation"],"prefix":"10.1891","volume":"30","author":[{"given":"Tara L.","family":"Marion","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanda T.","family":"Bradshaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"793","published-online":{"date-parts":[[2011,1,1]]},"reference":[{"issue":"1\u20133","key":"2019091812451742000_30.6.397.1","first-page":"73","article-title":"In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome","volume":"149","year":"2005","journal-title":"Respiratory Physiology & Neurobiology"},{"key":"2019091812451742000_30.6.397.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2004.04.009"},{"key":"2019091812451742000_30.6.397.3","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200602-305OC"},{"key":"2019091812451742000_30.6.397.4","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.160.1.16010"},{"key":"2019091812451742000_30.6.397.5","doi-asserted-by":"publisher","DOI":"10.1203\/01.pdr.0000191814.73340.1d"},{"issue":"3","key":"2019091812451742000_30.6.397.6","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1055\/s-0029-1222440","article-title":"Central congenital hypoventilation syndrome: Changing face of a less mysterious but more complex genetic disorder","volume":"30","year":"2009","journal-title":"Seminars in Respiratory and Critical Care Medicine"},{"issue":"2","key":"2019091812451742000_30.6.397.7","doi-asserted-by":"crossref","first-page":"e9","DOI":"10.1016\/j.jpedsurg.2006.10.022","article-title":"Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation","volume":"42","year":"2007","journal-title":"Journal of Pediatric Surgery"},{"key":"2019091812451742000_30.6.397.8","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807309242"},{"key":"2019091812451742000_30.6.397.9","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200602-266CR"},{"issue":"6","key":"2019091812451742000_30.6.397.10","first-page":"e737","article-title":"Congenital central hypoventilation syndrome and Hirschsprung\u2019s disease in an extremely preterm infant","volume":"2]115","year":"2005","journal-title":"Pediatrics."},{"key":"2019091812451742000_30.6.397.11","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.20366"}],"container-title":["Neonatal Network"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1891\/0730-0832.30.6.397","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,18]],"date-time":"2019-09-18T19:45:34Z","timestamp":1568835934000},"score":1,"resource":{"primary":{"URL":"http:\/\/connect.springerpub.com\/lookup\/doi\/10.1891\/0730-0832.30.6.397"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":11,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2011,1,1]]},"published-print":{"date-parts":[[2011]]}},"alternative-id":["10.1891\/0730-0832.30.6.397"],"URL":"https:\/\/doi.org\/10.1891\/0730-0832.30.6.397","relation":{},"ISSN":["0730-0832","1539-2880"],"issn-type":[{"value":"0730-0832","type":"print"},{"value":"1539-2880","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011]]}}}