{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T22:48:06Z","timestamp":1781563686993,"version":"3.54.5"},"reference-count":12,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2014,10,1]],"date-time":"2014-10-01T00:00:00Z","timestamp":1412121600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,10,1]],"date-time":"2014-10-01T00:00:00Z","timestamp":1412121600000},"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","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2014,10]]},"DOI":"10.1016\/j.jpeds.2014.06.048","type":"journal-article","created":{"date-parts":[[2014,7,24]],"date-time":"2014-07-24T21:45:21Z","timestamp":1406238321000},"page":"858-861","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"title":["Cri du Chat Syndrome and Primary Ciliary Dyskinesia: A Common Genetic Cause on Chromosome 5p"],"prefix":"10.1016","volume":"165","author":[{"given":"Adam J.","family":"Shapiro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen E.","family":"Weck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kay C.","family":"Chao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anders O.H.","family":"Nygren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R.","family":"Knowles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret W.","family":"Leigh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maimoona A.","family":"Zariwala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2014.06.048_bib1","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/1750-1172-1-33","article-title":"Cri du chat syndrome","volume":"1","author":"Cerruti","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jpeds.2014.06.048_bib2","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/BF00394291","article-title":"Review\u2014The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features","volume":"44","author":"Niebuhr","year":"1978","journal-title":"Hum Genet"},{"key":"10.1016\/j.jpeds.2014.06.048_bib3","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1086\/427762","article-title":"High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization","volume":"76","author":"Zhang","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpeds.2014.06.048_bib4","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.ejmg.2005.12.004","article-title":"The natural history of Cri du Chat Syndrome. A report from the Italian Register","volume":"49","author":"Mainardi","year":"2006","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.jpeds.2014.06.048_bib5","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/S0022-3476(83)80179-6","article-title":"Clinical heterogeneity in 80 home-reared children with cri du chat syndrome","volume":"102","author":"Wilkins","year":"1983","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2014.06.048_bib6","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1164\/rccm.201301-0059CI","article-title":"Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease","volume":"188","author":"Knowles","year":"2013","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jpeds.2014.06.048_bib7","unstructured":"Shapiro AJ, Davis SD, Ferkol TF, Dell SD, Rosenfeld M, Olivier K, et\u00a0al. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest, in press."},{"key":"10.1016\/j.jpeds.2014.06.048_bib8","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1164\/rccm.200601-084OC","article-title":"DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects","volume":"174","author":"Hornef","year":"2006","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jpeds.2014.06.048_bib9","doi-asserted-by":"crossref","first-page":"e57","DOI":"10.1093\/nar\/gnf056","article-title":"Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification","volume":"30","author":"Schouten","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jpeds.2014.06.048_bib10","doi-asserted-by":"crossref","first-page":"e924","DOI":"10.1542\/peds.2005-1012","article-title":"Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium","volume":"117","author":"Hills","year":"2006","journal-title":"Pediatrics"},{"key":"10.1016\/j.jpeds.2014.06.048_bib11","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1513\/AnnalsATS.201305-110OC","article-title":"Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia","volume":"10","author":"Leigh","year":"2013","journal-title":"Ann Am Thorac Soc"},{"key":"10.1016\/j.jpeds.2014.06.048_bib12","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/S0091-6749(03)01799-8","article-title":"Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia","volume":"112","author":"Chilvers","year":"2003","journal-title":"J Allergy Clin Immunol"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347614005939?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347614005939?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T08:56:55Z","timestamp":1758358615000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347614005939"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["S0022347614005939"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2014.06.048","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2014,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cri du Chat Syndrome and Primary Ciliary Dyskinesia: A Common Genetic Cause on Chromosome 5p","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2014.06.048","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}