{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T19:28:54Z","timestamp":1790191734252,"version":"4.1.0"},"reference-count":29,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T00:00:00Z","timestamp":1533081600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T00:00:00Z","timestamp":1533081600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Forensic and Legal Medicine"],"published-print":{"date-parts":[[2018,8]]},"DOI":"10.1016\/j.jflm.2018.04.009","type":"journal-article","created":{"date-parts":[[2018,4,16]],"date-time":"2018-04-16T21:43:33Z","timestamp":1523915013000},"page":"1-5","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B gene"],"prefix":"10.1016","volume":"58","author":[{"given":"Francesco","family":"Ventura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Barranco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Bachetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Nozza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ezio","family":"Fulcheri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Palmieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Ceccherini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"8","key":"10.1016\/j.jflm.2018.04.009_bib1","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1007\/s12098-012-0837-2","article-title":"Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?","volume":"80","author":"Nirupam","year":"2013","journal-title":"Indian J Pediatr"},{"key":"10.1016\/j.jflm.2018.04.009_bib2","series-title":"GeneReviews. Seattle (WA)","first-page":"1993","article-title":"Congenital central hypoventilation syndrome","author":"Weese-Mayer","year":"2004"},{"issue":"1","key":"10.1016\/j.jflm.2018.04.009_bib3","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.spen.2013.01.005","article-title":"Congenital central hypoventilation syndrome and sudden infant death syndrome: disorders of autonomic regulation","volume":"20","author":"Rand","year":"2013","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.jflm.2018.04.009_bib4","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1378\/chest.127.1.72","article-title":"The French congenital central hypoventilation syndrome registry: general data, phenotype, and genotype","volume":"127","author":"Trang","year":"2005","journal-title":"Chest"},{"issue":"4","key":"10.1016\/j.jflm.2018.04.009_bib5","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1007\/s00414-005-0538-8","article-title":"Unnatural causes of sudden unexpected deaths initially thought to be sudden infant death syndrome","volume":"119","author":"Bajanowski","year":"2005","journal-title":"Int J Legal Med"},{"key":"10.1016\/j.jflm.2018.04.009_bib6","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1097\/00005792-197011000-00003","article-title":"Failure of automatic control of ventilation (Ondine's curse). Report of an infant born with this syndrome and review of the literature","volume":"49","author":"Mellins","year":"1970","journal-title":"Medicine (Baltim)"},{"issue":"3","key":"10.1016\/j.jflm.2018.04.009_bib7","first-page":"269","article-title":"Novel mutation-deletion in the PHOX2B gene of the patient diagnosed with neuroblastoma, Hirschsprung's disease, and congenital central hypoventilation syndrome (NB-HSCR-CCHS) cluster","volume":"6","author":"Szymo\u0144ska","year":"2015","journal-title":"J Genet Syndr Gene Ther"},{"issue":"3","key":"10.1016\/j.jflm.2018.04.009_bib8","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1086\/428366","article-title":"PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome","volume":"76","author":"Trochet","year":"2005","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.jflm.2018.04.009_bib9","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1620\/tjem.203.65","article-title":"Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome","volume":"203","author":"Kijima","year":"2004","journal-title":"Tohoku J Exp Med"},{"issue":"10","key":"10.1016\/j.jflm.2018.04.009_bib10","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1164\/rccm.200602-305OC","article-title":"Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype","volume":"174","author":"Berry-Kravis","year":"2006","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jflm.2018.04.009_bib11","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1164\/rccm.200807-1069ST","article-title":"An official ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis, and management","volume":"181","author":"Weese-Mayer","year":"2010","journal-title":"Am J Respir Crit Care Med"},{"issue":"8","key":"10.1016\/j.jflm.2018.04.009_bib12","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1164\/rccm.200605-607CR","article-title":"PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood","volume":"174","author":"Antic","year":"2006","journal-title":"Am J Respir Crit Care Med"},{"issue":"6","key":"10.1016\/j.jflm.2018.04.009_bib13","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1891\/0730-0832.30.6.397","article-title":"Congenital central hypoventilation syndrome and the PHOX2B gene mutation","volume":"30","author":"Marion","year":"2011","journal-title":"Neonatal Netw"},{"issue":"5","key":"10.1016\/j.jflm.2018.04.009_bib14","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1007\/s00414-015-1213-3","article-title":"That's not it, either-neither polymorphisms in PHOX2B nor in MIF are involved in sudden infant death syndrome (SIDS)","volume":"129","author":"Poetsch","year":"2015","journal-title":"Int J Legal Med"},{"key":"10.1016\/j.jflm.2018.04.009_bib15","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.autneu.2012.06.005","article-title":"Developmental alterations of the respiratory human retrotrapezoid nucleus in sudden unexplained fetal and infant death","volume":"170","author":"Lavezzi","year":"2012","journal-title":"Auton Neurosci"},{"issue":"3","key":"10.1016\/j.jflm.2018.04.009_bib16","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.resp.2010.06.013","article-title":"Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation","volume":"173","author":"Patwari","year":"2010","journal-title":"Respir Physiol Neurobiol"},{"issue":"1","key":"10.1016\/j.jflm.2018.04.009_bib17","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/ppul.20744","article-title":"Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death","volume":"43","author":"Gronli","year":"2008","journal-title":"Pediatr Pulmonol"},{"issue":"4","key":"10.1016\/j.jflm.2018.04.009_bib18","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/sj.jp.7211480","article-title":"Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease","volume":"26","author":"Dejhalla","year":"2006","journal-title":"J Perinatol"},{"key":"10.1016\/j.jflm.2018.04.009_bib19","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1002\/ajmg.a.31336","article-title":"Sudden infant death syndrome: case-control frequency differences in paired like homeobox (PHOX) 2B gene","volume":"140","author":"Rand","year":"2006","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jflm.2018.04.009_bib20","first-page":"621","article-title":"PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population","volume":"128","author":"Liebrechts-Akkerman","year":"2014","journal-title":"Int J Legal Med"},{"key":"10.1016\/j.jflm.2018.04.009_bib21","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1136\/jmg.2003.015412","article-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","volume":"41","author":"Matera","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.jflm.2018.04.009_bib22","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1007\/s00109-010-0718-y","article-title":"Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome","volume":"89","author":"Bachetti","year":"2011","journal-title":"J Mol Med"},{"key":"10.1016\/j.jflm.2018.04.009_bib23","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1093\/hmg\/ddh047","article-title":"Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B","volume":"13","author":"Toyota","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jflm.2018.04.009_bib24","doi-asserted-by":"crossref","first-page":"1770","DOI":"10.1016\/j.bbadis.2017.04.017","article-title":"Ceccherini I. Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease","volume":"1863","author":"Di Zanni","year":"2017","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.jflm.2018.04.009_bib25","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1034\/j.1399-0004.2003.00105.x","article-title":"PMX2B, a new candidate gene for Hirschsprung's disease","volume":"64","author":"Benailly","year":"2003","journal-title":"Clin Genet"},{"key":"10.1016\/j.jflm.2018.04.009_bib26","doi-asserted-by":"crossref","first-page":"e54043","DOI":"10.1371\/journal.pone.0054043","article-title":"Contributions of PHOX2B in the pathogenesis of Hirschsprung disease","volume":"8","author":"Fern\u00e1ndez","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.jflm.2018.04.009_bib27","doi-asserted-by":"crossref","first-page":"7756","DOI":"10.1523\/JNEUROSCI.5550-12.2013","article-title":"Phox2b-expressing retrotrapezoid neurons are intrinsically responsive to H+ and CO2","volume":"33","author":"Wang","year":"2013","journal-title":"J Neurosci"},{"issue":"3-4","key":"10.1016\/j.jflm.2018.04.009_bib28","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1159\/000244052","article-title":"A perspective on neuropathologic findings in victims of the sudden infant death syndrome: the triple-risk model","volume":"65","author":"Filiano","year":"1994","journal-title":"Biol Neonate"},{"issue":"8","key":"10.1016\/j.jflm.2018.04.009_bib29","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1056\/NEJMra0803836","article-title":"The sudden infant death syndrome","volume":"361","author":"Kinney","year":"2009","journal-title":"N Engl J Med"}],"container-title":["Journal of Forensic and Legal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1752928X1830194X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1752928X1830194X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T00:12:12Z","timestamp":1761696732000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1752928X1830194X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8]]},"references-count":29,"alternative-id":["S1752928X1830194X"],"URL":"https:\/\/doi.org\/10.1016\/j.jflm.2018.04.009","relation":{},"ISSN":["1752-928X"],"issn-type":[{"value":"1752-928X","type":"print"}],"subject":[],"published":{"date-parts":[[2018,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B gene","name":"articletitle","label":"Article Title"},{"value":"Journal of Forensic and Legal Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jflm.2018.04.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.","name":"copyright","label":"Copyright"}]}}