{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T19:04:03Z","timestamp":1791054243255,"version":"4.1.0"},"reference-count":21,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2010,9,1]],"date-time":"2010-09-01T00:00:00Z","timestamp":1283299200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,9,1]],"date-time":"2010-09-01T00:00:00Z","timestamp":1283299200000},"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":[[2010,9]]},"DOI":"10.1016\/j.ejmg.2010.07.006","type":"journal-article","created":{"date-parts":[[2010,7,16]],"date-time":"2010-07-16T05:33:52Z","timestamp":1279258432000},"page":"268-273","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"title":["Four novel RSK2 mutations in females with Coffin\u2013Lowry syndrome"],"prefix":"10.1016","volume":"53","author":[{"given":"Dorota","family":"Jurkiewicz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Jezela-Stanek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u017cbieta","family":"Ciara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Piekutowska-Abramczuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Kugaudo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Gajdulewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystyna","family":"Chrzanowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Popowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Krajewska-Walasek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2010.07.006_bib1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2010.07.006_bib2","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1136\/jmg.35.2.94","article-title":"\u201cCataplexy\u201d and muscle ultrasound abnormalities in Coffin-Lowry syndrome","volume":"35","author":"Crow","year":"1998","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.07.006_bib3","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1111\/j.1399-0004.2006.00660.x","article-title":"Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin\u2013Lowry syndrome","volume":"70","author":"Delaunoy","year":"2006","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2010.07.006_bib4","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/1098-1004(200102)17:2<103::AID-HUMU2>3.0.CO;2-N","article-title":"Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin\u2013Lowry syndrome","volume":"17","author":"Delaunoy","year":"2001","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2010.07.006_bib5","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1136\/jmg.35.8.702","article-title":"\u201cCataplexy\u201d in Coffin\u2013Lowry syndrome","volume":"35","author":"Fryns","year":"1998","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.07.006_bib6","first-page":"405","article-title":"A female with Coffin\u2013Lowry syndrome and \u201ccataplexy\u201d","volume":"13","author":"Fryssira","year":"2002","journal-title":"Genet. Couns."},{"key":"10.1016\/j.ejmg.2010.07.006_bib7","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1136\/jmg.39.10.705","article-title":"Coffin\u2013Lowry syndrome: clinical and molecular features","volume":"39","author":"Hanauer","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.07.006_bib8","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1002\/ajmg.10574","article-title":"Coffin\u2013Lowry syndrome: a 20-year follow-up and review of long term outcomes","volume":"111","author":"Hunter","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.07.006_bib9","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1086\/302153","article-title":"Mutation analysis of the RSK2 gene in Coffin\u2013Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations","volume":"63","author":"Jacquot","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2010.07.006_bib10","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1038\/sj.ejhg.5201682","article-title":"Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers","volume":"14","author":"Knudsen","year":"2006","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2010.07.006_bib11","series-title":"Molecular Cloning: A Laboratory Manual","author":"Maniatis","year":"1982"},{"key":"10.1016\/j.ejmg.2010.07.006_bib12","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.braindev.2004.02.015","article-title":"RSK2 gene mutations in Coffin\u2013Lowry syndrome with drop episodes","volume":"27","author":"Nakamura","year":"2005","journal-title":"Brain. Dev."},{"key":"10.1016\/j.ejmg.2010.07.006_bib13","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1542\/peds.111.3.e197","article-title":"Stimulus-induced drop episodes in Coffin\u2013Lowry syndrome","volume":"111","author":"Nelson","year":"2003","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2010.07.006_bib14","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1007\/s00439-007-0424-1","article-title":"The first large duplication of the RSK2 gene identified in a Coffin\u2013Lowry syndrome patient","volume":"112","author":"Pereira","year":"2007","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ejmg.2010.07.006_bib15","first-page":"259","article-title":"Coffin\u2013Lowry syndrome: clinical aspects at different ages and symptoms in female carriers","volume":"6","author":"Plomp","year":"1995","journal-title":"Genet. Couns."},{"key":"10.1016\/j.ejmg.2010.07.006_bib16","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1038\/sj.ejhg.5201799","article-title":"Heritable skewed X-chromosome inactivation leads to haemophilia a expression in heterozygous females","volume":"15","author":"Renault","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2010.07.006_bib17","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1034\/j.1399-0004.2002.610410.x","article-title":"Cognitive function in Coffin\u2013Lowry syndrome","volume":"61","author":"Simensen","year":"2002","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2010.07.006_bib18","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.braindev.2003.11.010","article-title":"The movement disorders of Coffin\u2013Lowry syndrome","volume":"27","author":"Stephenson","year":"2005","journal-title":"Brain. Dev."},{"key":"10.1016\/j.ejmg.2010.07.006_bib19","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1038\/384567a0","article-title":"Mutations in the kinase Rsk-2 associated with Coffin\u2013Lowry syndrome","volume":"384","author":"Trivier","year":"1996","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2010.07.006_bib20","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1002\/ajmg.a.31266","article-title":"A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome","volume":"140","author":"Wang","year":"2006","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.07.006_bib21","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1136\/jmg.25.5.344","article-title":"The Coffin\u2013Lowry syndrome","volume":"25","author":"Young","year":"1988","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:S176972121000073X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121000073X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:38:13Z","timestamp":1761709093000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972121000073X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9]]},"references-count":21,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["S176972121000073X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2010.07.006","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2010,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Four novel RSK2 mutations in females with Coffin\u2013Lowry syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2010.07.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}