{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:01:26Z","timestamp":1791316886105,"version":"4.3.1"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2011,7,1]],"date-time":"2011-07-01T00:00:00Z","timestamp":1309478400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2011,7,1]],"date-time":"2011-07-01T00:00:00Z","timestamp":1309478400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Indian Pediatr"],"published-print":{"date-parts":[[2011,7]]},"DOI":"10.1007\/s13312-011-0086-x","type":"journal-article","created":{"date-parts":[[2011,7,25]],"date-time":"2011-07-25T05:06:40Z","timestamp":1311570400000},"page":"559-567","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations"],"prefix":"10.1007","volume":"48","author":[{"given":"Kerstin","family":"Reicherter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amithkumar Iynapillai","family":"Veeramani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sujatha","family":"Jagadeesh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,7,26]]},"reference":[{"key":"86_CR1","first-page":"388","volume-title":"Oxford Desk Reference Clinical Genetics","author":"H.V. Firth","year":"2005","unstructured":"Firth HV, Hurst JA. Oxford Desk Reference Clinical Genetics. 1st ed. Oxford: Oxford University Press; 2005. p. 388\u2013390.","edition":"1st ed."},{"key":"86_CR2","doi-asserted-by":"publisher","first-page":"1284","DOI":"10.1136\/bmj.2.5208.1284","volume":"2","author":"T.M. Vanier","year":"1960","unstructured":"Vanier TM. Dystrophia myotonica in childhood. Br Med J. 1960;2:1284\u20131288.","journal-title":"Br Med J"},{"key":"86_CR3","first-page":"1084","volume":"48","author":"M.C. Koch","year":"1991","unstructured":"Koch MC, Grimm T, Harley HG, Harper PS. Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet. 1991;48:1084\u20131091.","journal-title":"Am J Hum Genet"},{"key":"86_CR4","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1002\/pd.1627","volume":"27","author":"L. Martorell","year":"2007","unstructured":"Martorell L, Cobo AM, Baiget M, Naudo MS, Poza J, Parra J. Prenatal diagnosis in myotonic dystrophy type I \u2014 thirteen years of experience; implications for reproductive counselling in DM1 families. Prenatal Diagnosis. 2007;27:68\u201372.","journal-title":"Prenatal Diagnosis"},{"key":"86_CR5","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1038\/ng0692-192","volume":"1","author":"C. Tsilfidis","year":"1992","unstructured":"Tsilfidis C, MacKenzie AE, Mettler G, Barcelo J, Korneuk RG. Correlations between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet. 1992;1:192\u2013195.","journal-title":"Nat Genet"},{"key":"86_CR6","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1136\/jmg.32.2.105","volume":"32","author":"A. Cobo","year":"1995","unstructured":"Cobo A, Poza JJ, Martorell L, Lopez de Munain, Emparaza JI, Baiget M. Contribution of molecular analysis to the estimation of the risk of congenital myotonic dystrophy. J Med Genet. 1995;32:105\u2013108.","journal-title":"J Med Genet"},{"key":"86_CR7","doi-asserted-by":"crossref","unstructured":"Fenichel GM. Neonatal Neurology. 1st ed, Churchill Livingstone; 2007. p. 48\u201363.","DOI":"10.1016\/B978-044306724-2.50003-5"},{"key":"86_CR8","first-page":"1628","volume":"115","author":"X. Bi","year":"2002","unstructured":"Bi X, Xie H, Zheng H, Ding S, Zhang S, Wang Y, et al. DNA analysis in a suspected individual with Myotonic dystrophy family history and her abortus. Chin Med J. 2002;115:1628\u20131631.","journal-title":"Chin Med J"},{"key":"86_CR9","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1034\/j.1399-0004.2000.570112.x","volume":"57","author":"C. Marchini","year":"2000","unstructured":"Marchini C, Lonigro R, Verriello L, Pellizzari L, Bergonzi P, Damante G. Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy. Clin Genet. 2000;57:74\u201382.","journal-title":"Clin Genet"}],"container-title":["Indian Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13312-011-0086-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13312-011-0086-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13312-011-0086-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13312-011-0086-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T23:38:09Z","timestamp":1744155489000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13312-011-0086-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7]]},"references-count":9,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2011,7]]}},"alternative-id":["86"],"URL":"https:\/\/doi.org\/10.1007\/s13312-011-0086-x","relation":{},"ISSN":["0019-6061","0974-7559"],"issn-type":[{"value":"0019-6061","type":"print"},{"value":"0974-7559","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,7]]},"assertion":[{"value":"23 June 2009","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 January 2010","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 March 2010","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 July 2011","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}