{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:43:03Z","timestamp":1791398583329,"version":"4.3.3"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2007,3,14]],"date-time":"2007-03-14T00:00:00Z","timestamp":1173830400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2007,3,14]],"date-time":"2007-03-14T00:00:00Z","timestamp":1173830400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2007,6]]},"DOI":"10.1038\/sj.ejhg.5201813","type":"journal-article","created":{"date-parts":[[2007,3,14]],"date-time":"2007-03-14T02:47:28Z","timestamp":1173840448000},"page":"638-645","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":91,"title":["A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia"],"prefix":"10.1038","volume":"15","author":[{"given":"Eva","family":"Morava","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renate","family":"Zeevaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eckhard","family":"Korsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Huijben","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzan","family":"Wopereis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gert","family":"Matthijs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathelijn","family":"Keymolen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk J","family":"Lefeber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"De Meirleir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ron A","family":"Wevers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2007,3,14]]},"reference":[{"key":"BF5201813_CR1","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1203\/00006450-198002000-00117","volume":"14","author":"J Jaeken","year":"1980","unstructured":"Jaeken J, Vanderschueren-Lodeweycks M, Casaer P et al: Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF proteins: a new syndrome? Pediatr Res 1980; 14: 179.","journal-title":"Pediatr Res"},{"key":"BF5201813_CR2","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1038\/nm1041","volume":"10","author":"X Wu","year":"2004","unstructured":"Wu X, Steet R-A, Bohorov O et al: Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med 2004; 10: 518\u2013523.","journal-title":"Nat Med"},{"key":"BF5201813_CR3","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1083\/jcb.200202016","volume":"157","author":"D Ungar","year":"2002","unstructured":"Ungar D, Oka T, Brittle E-E et al: Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. J Cell Biol 2002; 157: 405\u2013415.","journal-title":"J Cell Biol"},{"key":"BF5201813_CR4","doi-asserted-by":"publisher","first-page":"24640","DOI":"10.1074\/jbc.M400662200","volume":"279","author":"E Loh","year":"2004","unstructured":"Loh E, Hong W : The binary interacting network of the conserved oligomeric Golgi tethering complex. J Biol Chem 2004; 279: 24640\u201324648.","journal-title":"J Biol Chem"},{"key":"BF5201813_CR5","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1111\/j.1600-0854.2005.00376.x","volume":"7","author":"A Shestakova","year":"2006","unstructured":"Shestakova A, Zolov S, Lupashin V : COG complex-mediated recycling of Golgi glycosyltransferases is essential for normal protein glycosylation. Traffic 2006; 7: 191\u2013204.","journal-title":"Traffic"},{"key":"BF5201813_CR6","doi-asserted-by":"publisher","first-page":"32736","DOI":"10.1074\/jbc.M505558200","volume":"280","author":"T Oka","year":"2005","unstructured":"Oka T, Vasile E, Penman M et al: Genetic analysis of the subunit organization and function of the conserved oligomeric golgi (COG) complex: studies of COG5- and COG7-deficient mammalian cells. J Biol Chem 2005; 280: 32736\u201332745.","journal-title":"J Biol Chem"},{"key":"BF5201813_CR7","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1007\/s10545-005-0015-z","volume":"28","author":"L-J Spaapen","year":"2005","unstructured":"Spaapen L-J, Bakker J-A, van der Meer S-B et al: Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder. J Inherit Metab Dis 2005; 28: 707\u2013714.","journal-title":"J Inherit Metab Dis"},{"key":"BF5201813_CR8","doi-asserted-by":"publisher","first-page":"3764","DOI":"10.1073\/pnas.0507685103","volume":"103","author":"F Foulquier","year":"2006","unstructured":"Foulquier F, Vasile E, Schollen E et al: Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci USA 2006; 103: 3764\u20133769.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201813_CR9","doi-asserted-by":"publisher","first-page":"1839","DOI":"10.1373\/clinchem.2003.022541","volume":"49","author":"S Wopereis","year":"2003","unstructured":"Wopereis S, Grunewald S, Morava E et al: Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin Chem 2003; 49: 1839\u20131845.","journal-title":"Clin Chem"},{"key":"BF5201813_CR10","doi-asserted-by":"publisher","first-page":"1312","DOI":"10.1093\/glycob\/cwj017","volume":"15","author":"S Wopereis","year":"2005","unstructured":"Wopereis S, Morava E, Grunewald S et al: Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. Glycobiology 2005; 15: 1312\u20131319.","journal-title":"Glycobiology"},{"key":"BF5201813_CR11","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1038\/sj.ejhg.5201361","volume":"13","author":"E Morava","year":"2005","unstructured":"Morava E, Wopereis S, Coucke P et al: Defective protein glycosylation in patients with cutis laxa syndrome. Eur J Hum Genet 2005; 13: 414\u2013421.","journal-title":"Eur J Hum Genet"},{"key":"BF5201813_CR12","first-page":"343","volume-title":"The metabolic & molecular bases of inherited disease","author":"SE Antonarakis","year":"2001","unstructured":"Antonarakis SE, Krawczak M, Cooper DN : The nature and mechanisms of human gene mutation; in: Scriver CR, Beaudet AL, Sly WS, Valle D (eds):: The metabolic & molecular bases of inherited disease. New York: McGraw-Hill, 2001, 8th edn. pp 343\u2013377."},{"key":"BF5201813_CR13","doi-asserted-by":"crossref","unstructured":"Cherni L, Loueslati BY, Pereira L, Ennafaa H, Amorim A, El Gaaied AB : Female gene pools of Berber and Arab neighboring communities in central Tunisia: microstructure of mtDNA variation in North Africa Hum Biol, 2005; 77: 61\u201370.","DOI":"10.1353\/hub.2005.0028"},{"key":"BF5201813_CR14","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1111\/j.1399-0004.1971.tb00262.x","volume":"2","author":"J-C Christian","year":"1971","unstructured":"Christian J-C, Andrews P-A, Conneally P-M, Muller J : The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. Clin Genet 1971; 2: 95\u2013103.","journal-title":"Clin Genet"},{"key":"BF5201813_CR15","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1002\/(SICI)1096-8628(19970516)70:2<114::AID-AJMG2>3.0.CO;2-Y","volume":"70","author":"M Moldavsky","year":"1977","unstructured":"Moldavsky M, Lerman-Sagie T, Kutai M, Legum C, Harel S : Heterogeneity in adducted thumbs sequence. Am J Med Genet 1977; 70: 114\u2013117.","journal-title":"Am J Med Genet"},{"key":"BF5201813_CR16","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1002\/ajmg.1181","volume":"99","author":"P Finelli","year":"2001","unstructured":"Finelli P, Giardino D, Russo S et al: Refined FISH characterization of a de novo 1p22\u2013p36.2 paracentric inversion and associated 1p21\u201322 deletion in a patient with signs of 1p36 microdeletion syndrome. Am J Med Genet 2001; 99: 308\u2013313.","journal-title":"Am J Med Genet"},{"key":"BF5201813_CR17","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1053\/ejpn.2001.0483","volume":"5","author":"P Briones","year":"2001","unstructured":"Briones P, Vilaseca M-A, Garcia-Silva M-T et al: Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease. Eur J Paediatr Neurol 2001; 5: 127\u2013131.","journal-title":"Eur J Paediatr Neurol"},{"key":"BF5201813_CR18","doi-asserted-by":"crossref","unstructured":"Foulquier F, Ungar D, Reynders E et al: A new inborn error of glycosylation due to Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. Hum Mol Genet 2007 January 12, (E-pub ahead of print).","DOI":"10.1093\/hmg\/ddl476"}],"updated-by":[{"DOI":"10.1038\/sj.ejhg.5201863","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2007,6,21]],"date-time":"2007-06-21T00:00:00Z","timestamp":1182384000000}}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201813.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201813","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201813.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T21:38:29Z","timestamp":1684359509000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201813"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3,14]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,6]]}},"alternative-id":["BF5201813"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201813","relation":{"erratum":[{"id-type":"doi","id":"10.1038\/sj.ejhg.5201863","asserted-by":"object"}]},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,3,14]]},"assertion":[{"value":"22 September 2006","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 February 2007","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 February 2007","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 March 2007","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}