{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T15:49:04Z","timestamp":1762098544295,"version":"build-2065373602"},"reference-count":10,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T00:00:00Z","timestamp":1498867200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T00:00:00Z","timestamp":1498867200000},"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":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2017,7]]},"DOI":"10.1016\/j.ejmg.2017.03.014","type":"journal-article","created":{"date-parts":[[2017,4,25]],"date-time":"2017-04-25T14:32:53Z","timestamp":1493130773000},"page":"395-398","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation"],"prefix":"10.1016","volume":"60","author":[{"given":"Chlo\u00e9","family":"Qu\u00e9lin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Loget","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9line","family":"Rozel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"D'Herv\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e9lanie","family":"Fradin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Demurger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Pasquier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Cav\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascale","family":"Marcorelles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.ejmg.2017.03.014_bib1","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1038\/ng1641","article-title":"Germline mutations in HRAS proto-oncogene cause Costello syndrome","volume":"37","author":"Aoki","year":"2005","journal-title":"Nat. Genet."},{"issue":"11","key":"10.1016\/j.ejmg.2017.03.014_bib2","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1016\/j.nmd.2014.06.437","article-title":"Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation","volume":"24","author":"Bolocan","year":"2014","journal-title":"Neuromuscul. Disord."},{"issue":"6","key":"10.1016\/j.ejmg.2017.03.014_bib3","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1007\/s004010050566","article-title":"Myopathology in patients with a Noonan phenotype","volume":"92","author":"De Boode","year":"1996","journal-title":"Acta Neuropathol."},{"issue":"5","key":"10.1016\/j.ejmg.2017.03.014_bib4","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1002\/ajmg.a.35296","article-title":"Neonatal lethal Costello syndrome and unusual dinucleotide deletion\/insertion mutations in HRAS predicting p.Gly12Val","volume":"158A","author":"Burkitt-Wright","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"issue":"3","key":"10.1016\/j.ejmg.2017.03.014_bib5","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/gim.0b013e31822dd91f","article-title":"Costello syndrome: a Ras\/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations","volume":"14","author":"Gripp","year":"2012","journal-title":"Genet. Med."},{"issue":"5","key":"10.1016\/j.ejmg.2017.03.014_bib6","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1136\/jmg.2005.040352","article-title":"Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases","volume":"43","author":"Kerr","year":"2006","journal-title":"J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2017.03.014_bib7","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1136\/jmg.2007.054411","article-title":"Severe neonatal manifestations of Costello syndrome","volume":"45","author":"Lo","year":"2008","journal-title":"J. Med. Genet."},{"issue":"11","key":"10.1016\/j.ejmg.2017.03.014_bib8","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/j.ejmg.2012.07.007","article-title":"Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D","volume":"55","author":"Lorenz","year":"2012","journal-title":"Eur. J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2017.03.014_bib9","doi-asserted-by":"crossref","first-page":"218","DOI":"10.2350\/09-06-0664-CR.1","article-title":"Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report","volume":"14","author":"Sinico","year":"2011","journal-title":"Pediatr. Dev. Pathol."},{"issue":"7","key":"10.1016\/j.ejmg.2017.03.014_bib10","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1136\/jmg.2007.049270","article-title":"Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation","volume":"44","author":"Van der Burgt","year":"2007","journal-title":"J. Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121630218X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121630218X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:44:05Z","timestamp":1761709445000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972121630218X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["S176972121630218X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.03.014","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2017,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.03.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}]}}