{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T21:27:45Z","timestamp":1788038865818,"version":"build-2784847793"},"reference-count":13,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2008,3,1]],"date-time":"2008-03-01T00:00:00Z","timestamp":1204329600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,3,1]],"date-time":"2008-03-01T00:00:00Z","timestamp":1204329600000},"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","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2008,3]]},"DOI":"10.1016\/j.nmd.2007.11.006","type":"journal-article","created":{"date-parts":[[2008,1,7]],"date-time":"2008-01-07T07:36:19Z","timestamp":1199691379000},"page":"210-214","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":31,"title":["Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers\u2013Danlos syndrome (EDS VI)"],"prefix":"10.1016","volume":"18","author":[{"given":"Ulu\u00e7","family":"Yi\u015f","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eray","family":"Dirik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e8line","family":"Chambaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beat","family":"Steinmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Giunta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2007.11.006_bib1","series-title":"Connective Tissue and its Heritable Disorders","first-page":"431","article-title":"The Ehlers\u2013Danlos syndrome","author":"Steinmann","year":"2002"},{"key":"10.1016\/j.nmd.2007.11.006_bib2","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1002\/ajmg.a.30529","article-title":"The nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers\u2013Danlos syndrome (EDS VIA)","volume":"133","author":"Giunta","year":"2005","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nmd.2007.11.006_bib3","first-page":"1505","article-title":"Urinary pyridinoline cross-links in Ehlers\u2013Danlos syndrome type VI","volume":"57","author":"Steinmann","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2007.11.006_bib4","unstructured":"Wenstrup R. Ehlers\u2013Danlos Syndrome, Kyphoscoliotic form. Gene Reviews: Genetic Disease Online Reviews. Univ. Washington, Seattle, WA, 2003."},{"key":"10.1016\/j.nmd.2007.11.006_bib5","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1006\/mgme.2000.3076","article-title":"Mutations in the lysyl hydroxylase gene that result in enzyme deficiency and the clinical phenotype of Ehlers\u2013Danlos syndrome type VI","volume":"71","author":"Yeowell","year":"2000","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nmd.2007.11.006_bib6","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/j.ymgme.2005.04.014","article-title":"Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers\u2013Danlos Syndrome (EDS VIA)","volume":"86","author":"Giunta","year":"2005","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nmd.2007.11.006_bib7","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.nmd.2004.06.009","article-title":"The congenital muscular dystrophies in 2004: a century of exciting process","volume":"14","author":"Muntoni","year":"2004","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2007.11.006_bib8","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1136\/jmg.2002.002311","article-title":"Collagen VI related muscle disorders","volume":"42","author":"Lampe","year":"2005","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2007.11.006_bib9","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1111\/j.0022-202X.2005.23727.x","article-title":"A novel mutation in the lysyl hydroxylase gene causes decreased lysyl hydroxylase activity in an Ehlers\u2013Danlos VIA patient","volume":"124","author":"Walker","year":"2005","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.nmd.2007.11.006_bib10","first-page":"277","article-title":"A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenital","volume":"6","author":"Calliari","year":"2007","journal-title":"Genet Mol Res"},{"key":"10.1016\/j.nmd.2007.11.006_bib11","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1093\/nar\/25.1.181","article-title":"The human type 1 collagen mutation database","volume":"25","author":"Dalgleish","year":"1997","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2007.11.006_bib12","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1086\/302857","article-title":"Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical menkes disease or occipital horn syndrome","volume":"66","author":"Moller","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2007.11.006_bib13","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1111\/j.1365-2133.2005.06506.x","article-title":"Different phenotypes in Muir\u2013Torre syndrome: clinical and biomolecular characterization in two Italian families","volume":"152","author":"Ponti","year":"2005","journal-title":"Br J Dermatol"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896607007596?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896607007596?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:55:50Z","timestamp":1760774150000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896607007596"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["S0960896607007596"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2007.11.006","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2008,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers\u2013Danlos syndrome (EDS VI)","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2007.11.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}