{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T14:59:02Z","timestamp":1762009142096,"version":"build-2065373602"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2018,11,28]],"date-time":"2018-11-28T00:00:00Z","timestamp":1543363200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2019,3]]},"DOI":"10.1007\/s12098-018-2807-9","type":"journal-article","created":{"date-parts":[[2018,11,28]],"date-time":"2018-11-28T01:06:22Z","timestamp":1543367182000},"page":"296-298","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Alstr\u00f6m Syndrome Presenting as Isolated Dilated Cardiomyopathy"],"prefix":"10.1007","volume":"86","author":[{"given":"Gayatri","family":"Nerakh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7122-3197","authenticated-orcid":false,"given":"Prajnya","family":"Ranganath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,11,28]]},"reference":[{"key":"2807_CR1","first-page":"1","volume":"129","author":"CH Alstrom","year":"1959","unstructured":"Alstrom CH, Hallgren B, Nilsson LB, Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenic deafness: a specific syndrome (not hitherto described) distinct from the Laurence\u2013 moon\u2013Bardet\u2013Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand Suppl. 1959;129:1\u201335.","journal-title":"Acta Psychiatr Neurol Scand Suppl"},{"key":"2807_CR2","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/j.ejmg.2014.01.007","volume":"57","author":"J Casey","year":"2014","unstructured":"Casey J, McGettigan P, Brosnahan D, et al. Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. Eur J Med Genet. 2014;57:55\u20139.","journal-title":"Eur J Med Genet"},{"key":"2807_CR3","doi-asserted-by":"publisher","first-page":"225","DOI":"10.2174\/138920211795677912","volume":"12","author":"JD Marshall","year":"2011","unstructured":"Marshall JD, Maffei P, Collin GB, Naggert JK. Alstrom syndrome: genetics and clinical overview. Curr Genomics. 2011;12:225\u201335.","journal-title":"Curr Genomics"},{"key":"2807_CR4","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1016\/j.ejmg.2014.06.004","volume":"57","author":"JJ Louw","year":"2014","unstructured":"Louw JJ, Corveleyn A, Jia Y, et al. Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings. Eur J Med Genet. 2014;57:532\u20135.","journal-title":"Eur J Med Genet"},{"key":"2807_CR5","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1007\/s00246-012-0296-6","volume":"34","author":"J Mahamid","year":"2013","unstructured":"Mahamid J, Lorber A, Horovitz Y, et al. Extreme clinical variability of dilated cardiomyopathy in two siblings with Alstr\u00f6m syndrome. Pediatr Cardiol. 2013;34:455\u20138.","journal-title":"Pediatr Cardiol"},{"key":"2807_CR6","doi-asserted-by":"publisher","first-page":"3110","DOI":"10.1210\/jc.2005-2633","volume":"91","author":"JAL Minton","year":"2006","unstructured":"Minton JAL, Owen KR, Ricketts CJ, Crabtree N, Shaikh G, Ehtisham S. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. J Clin Endocrinol Metab. 2006;91:3110\u20136.","journal-title":"J Clin Endocrinol Metab"},{"key":"2807_CR7","doi-asserted-by":"publisher","first-page":"3617","DOI":"10.1091\/mbc.e10-03-0246","volume":"21","author":"VJ Knorz","year":"2010","unstructured":"Knorz VJ, Spalluto C, Lessard M, et al. Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. Mol Biol Cell. 2010;21:3617\u201329.","journal-title":"Mol Biol Cell"},{"key":"2807_CR8","doi-asserted-by":"publisher","first-page":"660","DOI":"10.1002\/humu.22796","volume":"36","author":"JD Marshall","year":"2015","unstructured":"Marshall JD, Muller J, Collin GB, et al. Alstrom syndrome: mutation spectrum of ALMS1. Hum Mutat. 2015;36:660\u20138.","journal-title":"Hum Mutat"},{"key":"2807_CR9","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1016\/j.orcp.2016.09.004","volume":"11","author":"A Das Bhowmik","year":"2017","unstructured":"Das Bhowmik A, Gupta N, Dalal A, Kabra M. Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. Obes Res Clin Pract. 2017;11:241\u20136.","journal-title":"Obes Res Clin Pract"}],"container-title":["The Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12098-018-2807-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-018-2807-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-018-2807-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,11,28]],"date-time":"2019-11-28T00:40:39Z","timestamp":1574901639000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12098-018-2807-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,28]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["2807"],"URL":"https:\/\/doi.org\/10.1007\/s12098-018-2807-9","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"type":"print","value":"0019-5456"},{"type":"electronic","value":"0973-7693"}],"subject":[],"published":{"date-parts":[[2018,11,28]]},"assertion":[{"value":"23 April 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 October 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 November 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"None.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"None.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Source of Funding"}},{"value":"Written informed consent obtained from the father of the child for publication of clinical photographs and case details.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}}]}}